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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs765716633

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:72015254 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000008 (2/249672, GnomAD_exome)
C=0.000008 (1/120468, ExAC)
G=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NUMA1 : Missense Variant
LOC100128494 : Non Coding Transcript Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 10680 T=1.00000 G=0.00000
European Sub 6962 T=1.0000 G=0.0000
African Sub 2294 T=1.0000 G=0.0000
African Others Sub 84 T=1.00 G=0.00
African American Sub 2210 T=1.0000 G=0.0000
Asian Sub 108 T=1.000 G=0.000
East Asian Sub 84 T=1.00 G=0.00
Other Asian Sub 24 T=1.00 G=0.00
Latin American 1 Sub 146 T=1.000 G=0.000
Latin American 2 Sub 610 T=1.000 G=0.000
South Asian Sub 94 T=1.00 G=0.00
Other Sub 466 T=1.000 G=0.000


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 249672 T=0.999992 C=0.000008
gnomAD - Exomes European Sub 133836 T=0.999993 C=0.000007
gnomAD - Exomes Asian Sub 48984 T=0.99998 C=0.00002
gnomAD - Exomes American Sub 34556 T=1.00000 C=0.00000
gnomAD - Exomes African Sub 16170 T=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10018 T=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6108 T=1.0000 C=0.0000
ExAC Global Study-wide 120468 T=0.999992 C=0.000008
ExAC Europe Sub 72756 T=0.99999 C=0.00001
ExAC Asian Sub 25098 T=1.00000 C=0.00000
ExAC American Sub 11532 T=1.00000 C=0.00000
ExAC African Sub 10186 T=1.00000 C=0.00000
ExAC Other Sub 896 T=1.000 C=0.000
Allele Frequency Aggregator Total Global 10680 T=1.00000 G=0.00000
Allele Frequency Aggregator European Sub 6962 T=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2294 T=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 T=1.000 G=0.000
Allele Frequency Aggregator Other Sub 466 T=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 108 T=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 94 T=1.00 G=0.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 11 NC_000011.10:g.72015254T>C
GRCh38.p14 chr 11 NC_000011.10:g.72015254T>G
GRCh37.p13 chr 11 NC_000011.9:g.71726300T>C
GRCh37.p13 chr 11 NC_000011.9:g.71726300T>G
Gene: NUMA1, nuclear mitotic apparatus protein 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
NUMA1 transcript variant 1 NM_006185.4:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform 1 NP_006176.2:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant 1 NM_006185.4:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform 1 NP_006176.2:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant 2 NM_001286561.2:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform 2 NP_001273490.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant 2 NM_001286561.2:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform 2 NP_001273490.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant 3 NR_104476.2:n. N/A Intron Variant
NUMA1 transcript variant X8 XM_011545063.3:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_011543365.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X8 XM_011545063.3:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_011543365.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X1 XM_011545054.3:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_011543356.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X1 XM_011545054.3:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_011543356.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X2 XM_011545055.2:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_011543357.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X2 XM_011545055.2:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_011543357.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X3 XM_024448555.2:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_024304323.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X3 XM_024448555.2:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_024304323.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X4 XM_011545057.3:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_011543359.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X4 XM_011545057.3:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_011543359.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X5 XM_011545060.3:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_011543362.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X5 XM_011545060.3:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_011543362.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X6 XM_011545056.3:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_011543358.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X6 XM_011545056.3:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_011543358.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X7 XM_011545058.2:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_011543360.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X7 XM_011545058.2:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_011543360.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X9 XM_047426995.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_047282951.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X9 XM_047426995.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_047282951.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X10 XM_011545059.3:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_011543361.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X10 XM_011545059.3:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_011543361.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X11 XM_011545062.3:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_011543364.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X11 XM_011545062.3:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_011543364.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X12 XM_011545064.2:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_011543366.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X12 XM_011545064.2:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_011543366.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X13 XM_047426996.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_047282952.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X13 XM_047426996.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X1 XP_047282952.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X14 XM_011545065.3:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X2 XP_011543367.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X14 XM_011545065.3:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X2 XP_011543367.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X15 XM_047426997.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X2 XP_047282953.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X15 XM_047426997.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X2 XP_047282953.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X16 XM_047426998.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X2 XP_047282954.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X16 XM_047426998.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X2 XP_047282954.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X17 XM_047426999.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X2 XP_047282955.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X17 XM_047426999.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X2 XP_047282955.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X18 XM_047427000.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X2 XP_047282956.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X18 XM_047427000.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X2 XP_047282956.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X19 XM_047427001.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X2 XP_047282957.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X19 XM_047427001.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X2 XP_047282957.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X20 XM_047427002.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X2 XP_047282958.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X20 XM_047427002.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X2 XP_047282958.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X21 XM_047427003.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X2 XP_047282959.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X21 XM_047427003.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X2 XP_047282959.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X22 XM_047427004.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X2 XP_047282960.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X22 XM_047427004.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X2 XP_047282960.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X23 XM_047427005.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X2 XP_047282961.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X23 XM_047427005.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X2 XP_047282961.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X24 XM_047427006.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X2 XP_047282962.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X24 XM_047427006.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X2 XP_047282962.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X25 XM_047427007.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X2 XP_047282963.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X25 XM_047427007.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X2 XP_047282963.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X26 XM_006718564.3:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X3 XP_006718627.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X26 XM_006718564.3:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X3 XP_006718627.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X27 XM_024448556.2:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X3 XP_024304324.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X27 XM_024448556.2:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X3 XP_024304324.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X28 XM_047427008.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X3 XP_047282964.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X28 XM_047427008.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X3 XP_047282964.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X29 XM_047427009.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X3 XP_047282965.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X29 XM_047427009.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X3 XP_047282965.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X30 XM_047427010.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X3 XP_047282966.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X30 XM_047427010.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X3 XP_047282966.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X31 XM_047427011.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X3 XP_047282967.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X31 XM_047427011.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X3 XP_047282967.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X32 XM_047427012.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X3 XP_047282968.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X32 XM_047427012.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X3 XP_047282968.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X33 XM_047427013.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X3 XP_047282969.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X33 XM_047427013.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X3 XP_047282969.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X34 XM_047427014.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X3 XP_047282970.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X34 XM_047427014.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X3 XP_047282970.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X35 XM_047427015.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X3 XP_047282971.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X35 XM_047427015.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X3 XP_047282971.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X36 XM_047427016.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X3 XP_047282972.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X36 XM_047427016.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X3 XP_047282972.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X37 XM_047427017.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X3 XP_047282973.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X37 XM_047427017.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X3 XP_047282973.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X38 XM_017017830.2:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X4 XP_016873319.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X38 XM_017017830.2:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X4 XP_016873319.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X39 XM_011545066.3:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X4 XP_011543368.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X39 XM_011545066.3:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X4 XP_011543368.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X40 XM_047427018.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X4 XP_047282974.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X40 XM_047427018.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X4 XP_047282974.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X41 XM_047427019.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X4 XP_047282975.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X41 XM_047427019.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X4 XP_047282975.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X42 XM_047427020.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X4 XP_047282976.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X42 XM_047427020.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X4 XP_047282976.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X43 XM_047427021.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X4 XP_047282977.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X43 XM_047427021.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X4 XP_047282977.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X44 XM_047427022.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X4 XP_047282978.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X44 XM_047427022.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X4 XP_047282978.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X45 XM_047427023.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X4 XP_047282979.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X45 XM_047427023.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X4 XP_047282979.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X46 XM_017017831.2:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X4 XP_016873320.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X46 XM_017017831.2:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X4 XP_016873320.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X47 XM_047427024.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X4 XP_047282980.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X47 XM_047427024.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X4 XP_047282980.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X48 XM_047427025.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X4 XP_047282981.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X48 XM_047427025.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X4 XP_047282981.1:p.His750Pro H (His) > P (Pro) Missense Variant
NUMA1 transcript variant X49 XM_047427026.1:c.2249A>G H [CAT] > R [CGT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X4 XP_047282982.1:p.His750Arg H (His) > R (Arg) Missense Variant
NUMA1 transcript variant X49 XM_047427026.1:c.2249A>C H [CAT] > P [CCT] Coding Sequence Variant
nuclear mitotic apparatus protein 1 isoform X4 XP_047282982.1:p.His750Pro H (His) > P (Pro) Missense Variant
Gene: LOC100128494, uncharacterized LOC100128494 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC100128494 transcript NR_104178.1:n.964T>C N/A Non Coding Transcript Variant
LOC100128494 transcript NR_104178.1:n.964T>G N/A Non Coding Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement T= C G
GRCh38.p14 chr 11 NC_000011.10:g.72015254= NC_000011.10:g.72015254T>C NC_000011.10:g.72015254T>G
GRCh37.p13 chr 11 NC_000011.9:g.71726300= NC_000011.9:g.71726300T>C NC_000011.9:g.71726300T>G
NUMA1 transcript variant 1 NM_006185.4:c.2249= NM_006185.4:c.2249A>G NM_006185.4:c.2249A>C
NUMA1 transcript variant 1 NM_006185.3:c.2249= NM_006185.3:c.2249A>G NM_006185.3:c.2249A>C
NUMA1 transcript NM_006185.2:c.2249= NM_006185.2:c.2249A>G NM_006185.2:c.2249A>C
NUMA1 transcript variant X11 XM_011545062.3:c.2249= XM_011545062.3:c.2249A>G XM_011545062.3:c.2249A>C
NUMA1 transcript variant X10 XM_011545062.2:c.2249= XM_011545062.2:c.2249A>G XM_011545062.2:c.2249A>C
NUMA1 transcript variant X9 XM_011545062.1:c.2249= XM_011545062.1:c.2249A>G XM_011545062.1:c.2249A>C
NUMA1 transcript variant X10 XM_011545059.3:c.2249= XM_011545059.3:c.2249A>G XM_011545059.3:c.2249A>C
NUMA1 transcript variant X7 XM_011545059.2:c.2249= XM_011545059.2:c.2249A>G XM_011545059.2:c.2249A>C
NUMA1 transcript variant X6 XM_011545059.1:c.2249= XM_011545059.1:c.2249A>G XM_011545059.1:c.2249A>C
NUMA1 transcript variant X5 XM_011545060.3:c.2249= XM_011545060.3:c.2249A>G XM_011545060.3:c.2249A>C
NUMA1 transcript variant X9 XM_011545060.2:c.2249= XM_011545060.2:c.2249A>G XM_011545060.2:c.2249A>C
NUMA1 transcript variant X7 XM_011545060.1:c.2249= XM_011545060.1:c.2249A>G XM_011545060.1:c.2249A>C
NUMA1 transcript variant X6 XM_011545056.3:c.2249= XM_011545056.3:c.2249A>G XM_011545056.3:c.2249A>C
NUMA1 transcript variant X3 XM_011545056.2:c.2249= XM_011545056.2:c.2249A>G XM_011545056.2:c.2249A>C
NUMA1 transcript variant X3 XM_011545056.1:c.2249= XM_011545056.1:c.2249A>G XM_011545056.1:c.2249A>C
NUMA1 transcript variant X4 XM_011545057.3:c.2249= XM_011545057.3:c.2249A>G XM_011545057.3:c.2249A>C
NUMA1 transcript variant X4 XM_011545057.2:c.2249= XM_011545057.2:c.2249A>G XM_011545057.2:c.2249A>C
NUMA1 transcript variant X4 XM_011545057.1:c.2249= XM_011545057.1:c.2249A>G XM_011545057.1:c.2249A>C
NUMA1 transcript variant X1 XM_011545054.3:c.2249= XM_011545054.3:c.2249A>G XM_011545054.3:c.2249A>C
NUMA1 transcript variant X1 XM_011545054.2:c.2249= XM_011545054.2:c.2249A>G XM_011545054.2:c.2249A>C
NUMA1 transcript variant X1 XM_011545054.1:c.2249= XM_011545054.1:c.2249A>G XM_011545054.1:c.2249A>C
NUMA1 transcript variant X14 XM_011545065.3:c.2249= XM_011545065.3:c.2249A>G XM_011545065.3:c.2249A>C
NUMA1 transcript variant X13 XM_011545065.2:c.2249= XM_011545065.2:c.2249A>G XM_011545065.2:c.2249A>C
NUMA1 transcript variant X12 XM_011545065.1:c.2249= XM_011545065.1:c.2249A>G XM_011545065.1:c.2249A>C
NUMA1 transcript variant X26 XM_006718564.3:c.2249= XM_006718564.3:c.2249A>G XM_006718564.3:c.2249A>C
NUMA1 transcript variant X14 XM_006718564.2:c.2249= XM_006718564.2:c.2249A>G XM_006718564.2:c.2249A>C
NUMA1 transcript variant X13 XM_006718564.1:c.2249= XM_006718564.1:c.2249A>G XM_006718564.1:c.2249A>C
NUMA1 transcript variant X39 XM_011545066.3:c.2249= XM_011545066.3:c.2249A>G XM_011545066.3:c.2249A>C
NUMA1 transcript variant X16 XM_011545066.2:c.2249= XM_011545066.2:c.2249A>G XM_011545066.2:c.2249A>C
NUMA1 transcript variant X14 XM_011545066.1:c.2249= XM_011545066.1:c.2249A>G XM_011545066.1:c.2249A>C
NUMA1 transcript variant X8 XM_011545063.3:c.2249= XM_011545063.3:c.2249A>G XM_011545063.3:c.2249A>C
NUMA1 transcript variant X10 XM_011545063.2:c.2249= XM_011545063.2:c.2249A>G XM_011545063.2:c.2249A>C
NUMA1 transcript variant X10 XM_011545063.1:c.2249= XM_011545063.1:c.2249A>G XM_011545063.1:c.2249A>C
NUMA1 transcript variant X46 XM_017017831.2:c.2249= XM_017017831.2:c.2249A>G XM_017017831.2:c.2249A>C
NUMA1 transcript variant X18 XM_017017831.1:c.2249= XM_017017831.1:c.2249A>G XM_017017831.1:c.2249A>C
NUMA1 transcript variant X3 XM_024448555.2:c.2249= XM_024448555.2:c.2249A>G XM_024448555.2:c.2249A>C
NUMA1 transcript variant X5 XM_024448555.1:c.2249= XM_024448555.1:c.2249A>G XM_024448555.1:c.2249A>C
NUMA1 transcript variant X27 XM_024448556.2:c.2249= XM_024448556.2:c.2249A>G XM_024448556.2:c.2249A>C
NUMA1 transcript variant X15 XM_024448556.1:c.2249= XM_024448556.1:c.2249A>G XM_024448556.1:c.2249A>C
NUMA1 transcript variant X12 XM_011545064.2:c.2249= XM_011545064.2:c.2249A>G XM_011545064.2:c.2249A>C
NUMA1 transcript variant X12 XM_011545064.1:c.2249= XM_011545064.1:c.2249A>G XM_011545064.1:c.2249A>C
NUMA1 transcript variant 2 NM_001286561.2:c.2249= NM_001286561.2:c.2249A>G NM_001286561.2:c.2249A>C
NUMA1 transcript variant 2 NM_001286561.1:c.2249= NM_001286561.1:c.2249A>G NM_001286561.1:c.2249A>C
NUMA1 transcript variant X2 XM_011545055.2:c.2249= XM_011545055.2:c.2249A>G XM_011545055.2:c.2249A>C
NUMA1 transcript variant X2 XM_011545055.1:c.2249= XM_011545055.1:c.2249A>G XM_011545055.1:c.2249A>C
NUMA1 transcript variant X7 XM_011545058.2:c.2249= XM_011545058.2:c.2249A>G XM_011545058.2:c.2249A>C
NUMA1 transcript variant X6 XM_011545058.1:c.2249= XM_011545058.1:c.2249A>G XM_011545058.1:c.2249A>C
NUMA1 transcript variant X38 XM_017017830.2:c.2249= XM_017017830.2:c.2249A>G XM_017017830.2:c.2249A>C
NUMA1 transcript variant X17 XM_017017830.1:c.2249= XM_017017830.1:c.2249A>G XM_017017830.1:c.2249A>C
NUMA1 transcript variant X20 XM_047427002.1:c.2249= XM_047427002.1:c.2249A>G XM_047427002.1:c.2249A>C
NUMA1 transcript variant X24 XM_047427006.1:c.2249= XM_047427006.1:c.2249A>G XM_047427006.1:c.2249A>C
NUMA1 transcript variant X34 XM_047427014.1:c.2249= XM_047427014.1:c.2249A>G XM_047427014.1:c.2249A>C
NUMA1 transcript variant X23 XM_047427005.1:c.2249= XM_047427005.1:c.2249A>G XM_047427005.1:c.2249A>C
NUMA1 transcript variant X18 XM_047427000.1:c.2249= XM_047427000.1:c.2249A>G XM_047427000.1:c.2249A>C
NUMA1 transcript variant X32 XM_047427012.1:c.2249= XM_047427012.1:c.2249A>G XM_047427012.1:c.2249A>C
NUMA1 transcript variant X33 XM_047427013.1:c.2249= XM_047427013.1:c.2249A>G XM_047427013.1:c.2249A>C
NUMA1 transcript variant X44 XM_047427022.1:c.2249= XM_047427022.1:c.2249A>G XM_047427022.1:c.2249A>C
NUMA1 transcript variant X43 XM_047427021.1:c.2249= XM_047427021.1:c.2249A>G XM_047427021.1:c.2249A>C
NUMA1 transcript variant X16 XM_047426998.1:c.2249= XM_047426998.1:c.2249A>G XM_047426998.1:c.2249A>C
NUMA1 transcript variant X22 XM_047427004.1:c.2249= XM_047427004.1:c.2249A>G XM_047427004.1:c.2249A>C
NUMA1 transcript variant X17 XM_047426999.1:c.2249= XM_047426999.1:c.2249A>G XM_047426999.1:c.2249A>C
NUMA1 transcript variant X30 XM_047427010.1:c.2249= XM_047427010.1:c.2249A>G XM_047427010.1:c.2249A>C
NUMA1 transcript variant X28 XM_047427008.1:c.2249= XM_047427008.1:c.2249A>G XM_047427008.1:c.2249A>C
NUMA1 transcript variant X40 XM_047427018.1:c.2249= XM_047427018.1:c.2249A>G XM_047427018.1:c.2249A>C
NUMA1 transcript variant X49 XM_047427026.1:c.2249= XM_047427026.1:c.2249A>G XM_047427026.1:c.2249A>C
NUMA1 transcript variant X41 XM_047427019.1:c.2249= XM_047427019.1:c.2249A>G XM_047427019.1:c.2249A>C
NUMA1 transcript variant X13 XM_047426996.1:c.2249= XM_047426996.1:c.2249A>G XM_047426996.1:c.2249A>C
NUMA1 transcript variant X37 XM_047427017.1:c.2249= XM_047427017.1:c.2249A>G XM_047427017.1:c.2249A>C
NUMA1 transcript variant X29 XM_047427009.1:c.2249= XM_047427009.1:c.2249A>G XM_047427009.1:c.2249A>C
NUMA1 transcript variant X15 XM_047426997.1:c.2249= XM_047426997.1:c.2249A>G XM_047426997.1:c.2249A>C
NUMA1 transcript variant X48 XM_047427025.1:c.2249= XM_047427025.1:c.2249A>G XM_047427025.1:c.2249A>C
NUMA1 transcript variant X19 XM_047427001.1:c.2249= XM_047427001.1:c.2249A>G XM_047427001.1:c.2249A>C
NUMA1 transcript variant X31 XM_047427011.1:c.2249= XM_047427011.1:c.2249A>G XM_047427011.1:c.2249A>C
NUMA1 transcript variant X9 XM_047426995.1:c.2249= XM_047426995.1:c.2249A>G XM_047426995.1:c.2249A>C
NUMA1 transcript variant X42 XM_047427020.1:c.2249= XM_047427020.1:c.2249A>G XM_047427020.1:c.2249A>C
NUMA1 transcript variant X21 XM_047427003.1:c.2249= XM_047427003.1:c.2249A>G XM_047427003.1:c.2249A>C
NUMA1 transcript variant X25 XM_047427007.1:c.2249= XM_047427007.1:c.2249A>G XM_047427007.1:c.2249A>C
NUMA1 transcript variant X36 XM_047427016.1:c.2249= XM_047427016.1:c.2249A>G XM_047427016.1:c.2249A>C
NUMA1 transcript variant X35 XM_047427015.1:c.2249= XM_047427015.1:c.2249A>G XM_047427015.1:c.2249A>C
NUMA1 transcript variant X45 XM_047427023.1:c.2249= XM_047427023.1:c.2249A>G XM_047427023.1:c.2249A>C
NUMA1 transcript variant X47 XM_047427024.1:c.2249= XM_047427024.1:c.2249A>G XM_047427024.1:c.2249A>C
LOC100128494 transcript NR_104178.1:n.964= NR_104178.1:n.964T>C NR_104178.1:n.964T>G
nuclear mitotic apparatus protein 1 isoform 1 NP_006176.2:p.His750= NP_006176.2:p.His750Arg NP_006176.2:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X1 XP_011543364.1:p.His750= XP_011543364.1:p.His750Arg XP_011543364.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X1 XP_011543361.1:p.His750= XP_011543361.1:p.His750Arg XP_011543361.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X1 XP_011543362.1:p.His750= XP_011543362.1:p.His750Arg XP_011543362.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X1 XP_011543358.1:p.His750= XP_011543358.1:p.His750Arg XP_011543358.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X1 XP_011543359.1:p.His750= XP_011543359.1:p.His750Arg XP_011543359.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X1 XP_011543356.1:p.His750= XP_011543356.1:p.His750Arg XP_011543356.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X2 XP_011543367.1:p.His750= XP_011543367.1:p.His750Arg XP_011543367.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X3 XP_006718627.1:p.His750= XP_006718627.1:p.His750Arg XP_006718627.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X4 XP_011543368.1:p.His750= XP_011543368.1:p.His750Arg XP_011543368.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X1 XP_011543365.1:p.His750= XP_011543365.1:p.His750Arg XP_011543365.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X4 XP_016873320.1:p.His750= XP_016873320.1:p.His750Arg XP_016873320.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X1 XP_024304323.1:p.His750= XP_024304323.1:p.His750Arg XP_024304323.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X3 XP_024304324.1:p.His750= XP_024304324.1:p.His750Arg XP_024304324.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X1 XP_011543366.1:p.His750= XP_011543366.1:p.His750Arg XP_011543366.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform 2 NP_001273490.1:p.His750= NP_001273490.1:p.His750Arg NP_001273490.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X1 XP_011543357.1:p.His750= XP_011543357.1:p.His750Arg XP_011543357.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X1 XP_011543360.1:p.His750= XP_011543360.1:p.His750Arg XP_011543360.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X4 XP_016873319.1:p.His750= XP_016873319.1:p.His750Arg XP_016873319.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X2 XP_047282958.1:p.His750= XP_047282958.1:p.His750Arg XP_047282958.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X2 XP_047282962.1:p.His750= XP_047282962.1:p.His750Arg XP_047282962.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X3 XP_047282970.1:p.His750= XP_047282970.1:p.His750Arg XP_047282970.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X2 XP_047282961.1:p.His750= XP_047282961.1:p.His750Arg XP_047282961.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X2 XP_047282956.1:p.His750= XP_047282956.1:p.His750Arg XP_047282956.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X3 XP_047282968.1:p.His750= XP_047282968.1:p.His750Arg XP_047282968.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X3 XP_047282969.1:p.His750= XP_047282969.1:p.His750Arg XP_047282969.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X4 XP_047282978.1:p.His750= XP_047282978.1:p.His750Arg XP_047282978.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X4 XP_047282977.1:p.His750= XP_047282977.1:p.His750Arg XP_047282977.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X2 XP_047282954.1:p.His750= XP_047282954.1:p.His750Arg XP_047282954.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X2 XP_047282960.1:p.His750= XP_047282960.1:p.His750Arg XP_047282960.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X2 XP_047282955.1:p.His750= XP_047282955.1:p.His750Arg XP_047282955.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X3 XP_047282966.1:p.His750= XP_047282966.1:p.His750Arg XP_047282966.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X3 XP_047282964.1:p.His750= XP_047282964.1:p.His750Arg XP_047282964.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X4 XP_047282974.1:p.His750= XP_047282974.1:p.His750Arg XP_047282974.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X4 XP_047282982.1:p.His750= XP_047282982.1:p.His750Arg XP_047282982.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X4 XP_047282975.1:p.His750= XP_047282975.1:p.His750Arg XP_047282975.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X1 XP_047282952.1:p.His750= XP_047282952.1:p.His750Arg XP_047282952.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X3 XP_047282973.1:p.His750= XP_047282973.1:p.His750Arg XP_047282973.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X3 XP_047282965.1:p.His750= XP_047282965.1:p.His750Arg XP_047282965.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X2 XP_047282953.1:p.His750= XP_047282953.1:p.His750Arg XP_047282953.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X4 XP_047282981.1:p.His750= XP_047282981.1:p.His750Arg XP_047282981.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X2 XP_047282957.1:p.His750= XP_047282957.1:p.His750Arg XP_047282957.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X3 XP_047282967.1:p.His750= XP_047282967.1:p.His750Arg XP_047282967.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X1 XP_047282951.1:p.His750= XP_047282951.1:p.His750Arg XP_047282951.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X4 XP_047282976.1:p.His750= XP_047282976.1:p.His750Arg XP_047282976.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X2 XP_047282959.1:p.His750= XP_047282959.1:p.His750Arg XP_047282959.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X2 XP_047282963.1:p.His750= XP_047282963.1:p.His750Arg XP_047282963.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X3 XP_047282972.1:p.His750= XP_047282972.1:p.His750Arg XP_047282972.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X3 XP_047282971.1:p.His750= XP_047282971.1:p.His750Arg XP_047282971.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X4 XP_047282979.1:p.His750= XP_047282979.1:p.His750Arg XP_047282979.1:p.His750Pro
nuclear mitotic apparatus protein 1 isoform X4 XP_047282980.1:p.His750= XP_047282980.1:p.His750Arg XP_047282980.1:p.His750Pro
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Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1690530008 Apr 01, 2015 (144)
2 GNOMAD ss2739222349 Nov 08, 2017 (151)
3 ExAC NC_000011.9 - 71726300 Oct 12, 2018 (152)
4 gnomAD - Exomes NC_000011.9 - 71726300 Jul 13, 2019 (153)
5 ALFA NC_000011.10 - 72015254 Apr 26, 2021 (155)
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History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
797514, 8438999, ss1690530008, ss2739222349 NC_000011.9:71726299:T:C NC_000011.10:72015253:T:C (self)
12308521031 NC_000011.10:72015253:T:G NC_000011.10:72015253:T:G (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs765716633

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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07