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dbSNP Short Genetic Variations

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.

rs63750201

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:37025990 (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>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000038 (10/264690, TOPMED)
C=0.000004 (1/250492, GnomAD_exome)
C=0.000050 (7/140238, GnomAD) (+ 3 more)
C=0.000017 (2/120762, ExAC)
C=0.00007 (1/14050, ALFA)
C=0.00008 (1/13006, GO-ESP)
Clinical Significance
Reported in ClinVar
Gene : Consequence
MLH1 : Synonymous 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 30398 T=0.99993 C=0.00007
European Sub 19772 T=0.99990 C=0.00010
African Sub 7732 T=1.0000 C=0.0000
African Others Sub 298 T=1.000 C=0.000
African American Sub 7434 T=1.0000 C=0.0000
Asian Sub 112 T=1.000 C=0.000
East Asian Sub 86 T=1.00 C=0.00
Other Asian Sub 26 T=1.00 C=0.00
Latin American 1 Sub 146 T=1.000 C=0.000
Latin American 2 Sub 610 T=1.000 C=0.000
South Asian Sub 98 T=1.00 C=0.00
Other Sub 1928 T=1.0000 C=0.0000


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
TopMed Global Study-wide 264690 T=0.999962 C=0.000038
gnomAD - Exomes Global Study-wide 250492 T=0.999996 C=0.000004
gnomAD - Exomes European Sub 135034 T=0.999993 C=0.000007
gnomAD - Exomes Asian Sub 49004 T=1.00000 C=0.00000
gnomAD - Exomes American Sub 34586 T=1.00000 C=0.00000
gnomAD - Exomes African Sub 15712 T=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10064 T=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6092 T=1.0000 C=0.0000
gnomAD - Genomes Global Study-wide 140238 T=0.999950 C=0.000050
gnomAD - Genomes European Sub 75938 T=0.99992 C=0.00008
gnomAD - Genomes African Sub 42036 T=0.99998 C=0.00002
gnomAD - Genomes American Sub 13654 T=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3134 T=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2152 T=1.0000 C=0.0000
ExAC Global Study-wide 120762 T=0.999983 C=0.000017
ExAC Europe Sub 73256 T=0.99997 C=0.00003
ExAC Asian Sub 25132 T=1.00000 C=0.00000
ExAC American Sub 11558 T=1.00000 C=0.00000
ExAC African Sub 9912 T=1.0000 C=0.0000
ExAC Other Sub 904 T=1.000 C=0.000
Allele Frequency Aggregator Total Global 14050 T=0.99993 C=0.00007
Allele Frequency Aggregator European Sub 9690 T=0.9999 C=0.0001
Allele Frequency Aggregator African Sub 2898 T=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 T=1.000 C=0.000
Allele Frequency Aggregator Other Sub 496 T=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 112 T=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 98 T=1.00 C=0.00
GO Exome Sequencing Project Global Study-wide 13006 T=0.99992 C=0.00008
GO Exome Sequencing Project European American Sub 8600 T=0.9999 C=0.0001
GO Exome Sequencing Project African American Sub 4406 T=1.0000 C=0.0000
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 3 NC_000003.12:g.37025990T>A
GRCh38.p14 chr 3 NC_000003.12:g.37025990T>C
GRCh37.p13 chr 3 NC_000003.11:g.37067481T>A
GRCh37.p13 chr 3 NC_000003.11:g.37067481T>C
MLH1 RefSeqGene (LRG_216) NG_007109.2:g.37641T>A
MLH1 RefSeqGene (LRG_216) NG_007109.2:g.37641T>C
Gene: MLH1, mutL homolog 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MLH1 transcript variant 1 NM_000249.4:c.1392T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 1 NP_000240.1:p.Pro464= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 1 NM_000249.4:c.1392T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 1 NP_000240.1:p.Pro464= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 8 NM_001354615.2:c.669T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 3 NP_001341544.1:p.Pro223= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 8 NM_001354615.2:c.669T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 3 NP_001341544.1:p.Pro223= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 22 NM_001354629.2:c.1293T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 8 NP_001341558.1:p.Pro431= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 22 NM_001354629.2:c.1293T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 8 NP_001341558.1:p.Pro431= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 16 NM_001354623.2:c.369T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 5 NP_001341552.1:p.Pro123= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 16 NM_001354623.2:c.369T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 5 NP_001341552.1:p.Pro123= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 9 NM_001354616.2:c.669T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 3 NP_001341545.1:p.Pro223= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 9 NM_001354616.2:c.669T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 3 NP_001341545.1:p.Pro223= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 11 NM_001354618.2:c.669T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 3 NP_001341547.1:p.Pro223= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 11 NM_001354618.2:c.669T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 3 NP_001341547.1:p.Pro223= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 13 NM_001354620.2:c.1098T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 2 NP_001341549.1:p.Pro366= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 13 NM_001354620.2:c.1098T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 2 NP_001341549.1:p.Pro366= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 20 NM_001354627.2:c.318T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 6 NP_001341556.1:p.Pro106= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 20 NM_001354627.2:c.318T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 6 NP_001341556.1:p.Pro106= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 18 NM_001354625.2:c.318T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 6 NP_001341554.1:p.Pro106= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 18 NM_001354625.2:c.318T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 6 NP_001341554.1:p.Pro106= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 10 NM_001354617.2:c.669T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 3 NP_001341546.1:p.Pro223= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 10 NM_001354617.2:c.669T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 3 NP_001341546.1:p.Pro223= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 6 NM_001258273.2:c.669T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 3 NP_001245202.1:p.Pro223= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 6 NM_001258273.2:c.669T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 3 NP_001245202.1:p.Pro223= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 4 NM_001167619.3:c.669T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 3 NP_001161091.1:p.Pro223= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 4 NM_001167619.3:c.669T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 3 NP_001161091.1:p.Pro223= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 19 NM_001354626.2:c.318T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 6 NP_001341555.1:p.Pro106= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 19 NM_001354626.2:c.318T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 6 NP_001341555.1:p.Pro106= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 3 NM_001167618.3:c.669T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 3 NP_001161090.1:p.Pro223= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 3 NM_001167618.3:c.669T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 3 NP_001161090.1:p.Pro223= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 2 NM_001167617.3:c.1098T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 2 NP_001161089.1:p.Pro366= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 2 NM_001167617.3:c.1098T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 2 NP_001161089.1:p.Pro366= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 21 NM_001354628.2:c.1392T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 7 NP_001341557.1:p.Pro464= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 21 NM_001354628.2:c.1392T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 7 NP_001341557.1:p.Pro464= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 23 NM_001354630.2:c.1392T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 9 NP_001341559.1:p.Pro464= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 23 NM_001354630.2:c.1392T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 9 NP_001341559.1:p.Pro464= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 14 NM_001354621.2:c.369T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 5 NP_001341550.1:p.Pro123= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 14 NM_001354621.2:c.369T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 5 NP_001341550.1:p.Pro123= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 5 NM_001258271.2:c.1392T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 4 NP_001245200.1:p.Pro464= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 5 NM_001258271.2:c.1392T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 4 NP_001245200.1:p.Pro464= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 7 NM_001258274.3:c.669T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 3 NP_001245203.1:p.Pro223= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 7 NM_001258274.3:c.669T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 3 NP_001245203.1:p.Pro223= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 17 NM_001354624.2:c.318T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 6 NP_001341553.1:p.Pro106= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 17 NM_001354624.2:c.318T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 6 NP_001341553.1:p.Pro106= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 12 NM_001354619.2:c.669T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 3 NP_001341548.1:p.Pro223= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 12 NM_001354619.2:c.669T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 3 NP_001341548.1:p.Pro223= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 15 NM_001354622.2:c.369T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 5 NP_001341551.1:p.Pro123= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant 15 NM_001354622.2:c.369T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform 5 NP_001341551.1:p.Pro123= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant X1 XM_047448152.1:c.1293T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform X1 XP_047304108.1:p.Pro431= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant X1 XM_047448152.1:c.1293T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform X1 XP_047304108.1:p.Pro431= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant X2 XM_005265161.3:c.1185T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform X2 XP_005265218.1:p.Pro395= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant X2 XM_005265161.3:c.1185T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform X2 XP_005265218.1:p.Pro395= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant X3 XM_047448153.1:c.669T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform X3 XP_047304109.1:p.Pro223= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant X3 XM_047448153.1:c.669T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform X3 XP_047304109.1:p.Pro223= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant X4 XM_047448154.1:c.669T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform X3 XP_047304110.1:p.Pro223= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant X4 XM_047448154.1:c.669T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform X3 XP_047304110.1:p.Pro223= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant X5 XM_047448155.1:c.669T>A P [CCT] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform X3 XP_047304111.1:p.Pro223= P (Pro) > P (Pro) Synonymous Variant
MLH1 transcript variant X5 XM_047448155.1:c.669T>C P [CCT] > P [CCC] Coding Sequence Variant
DNA mismatch repair protein Mlh1 isoform X3 XP_047304111.1:p.Pro223= P (Pro) > P (Pro) Synonymous 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.

Allele: C (allele ID: 95186 )
ClinVar Accession Disease Names Clinical Significance
RCV000075186.6 Lynch syndrome Uncertain-Significance
RCV000162675.3 Hereditary cancer-predisposing syndrome Likely-Benign
RCV000524236.7 Hereditary nonpolyposis colorectal neoplasms Likely-Benign
RCV000987176.1 Colorectal cancer, hereditary nonpolyposis, type 2 Uncertain-Significance
RCV001192574.1 not specified Likely-Benign
RCV001284162.5 not provided Benign-Likely-Benign
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= A C
GRCh38.p14 chr 3 NC_000003.12:g.37025990= NC_000003.12:g.37025990T>A NC_000003.12:g.37025990T>C
GRCh37.p13 chr 3 NC_000003.11:g.37067481= NC_000003.11:g.37067481T>A NC_000003.11:g.37067481T>C
MLH1 RefSeqGene (LRG_216) NG_007109.2:g.37641= NG_007109.2:g.37641T>A NG_007109.2:g.37641T>C
MLH1 transcript variant 1 NM_000249.4:c.1392= NM_000249.4:c.1392T>A NM_000249.4:c.1392T>C
MLH1 transcript variant 1 NM_000249.3:c.1392= NM_000249.3:c.1392T>A NM_000249.3:c.1392T>C
MLH1 transcript variant 7 NM_001258274.3:c.669= NM_001258274.3:c.669T>A NM_001258274.3:c.669T>C
MLH1 transcript variant 7 NM_001258274.2:c.669= NM_001258274.2:c.669T>A NM_001258274.2:c.669T>C
MLH1 transcript variant 7 NM_001258274.1:c.669= NM_001258274.1:c.669T>A NM_001258274.1:c.669T>C
MLH1 transcript variant 3 NM_001167618.3:c.669= NM_001167618.3:c.669T>A NM_001167618.3:c.669T>C
MLH1 transcript variant 3 NM_001167618.2:c.669= NM_001167618.2:c.669T>A NM_001167618.2:c.669T>C
MLH1 transcript variant 3 NM_001167618.1:c.669= NM_001167618.1:c.669T>A NM_001167618.1:c.669T>C
MLH1 transcript variant 2 NM_001167617.3:c.1098= NM_001167617.3:c.1098T>A NM_001167617.3:c.1098T>C
MLH1 transcript variant 2 NM_001167617.2:c.1098= NM_001167617.2:c.1098T>A NM_001167617.2:c.1098T>C
MLH1 transcript variant 2 NM_001167617.1:c.1098= NM_001167617.1:c.1098T>A NM_001167617.1:c.1098T>C
MLH1 transcript variant 4 NM_001167619.3:c.669= NM_001167619.3:c.669T>A NM_001167619.3:c.669T>C
MLH1 transcript variant 4 NM_001167619.2:c.669= NM_001167619.2:c.669T>A NM_001167619.2:c.669T>C
MLH1 transcript variant 4 NM_001167619.1:c.669= NM_001167619.1:c.669T>A NM_001167619.1:c.669T>C
MLH1 transcript variant 12 NM_001354619.2:c.669= NM_001354619.2:c.669T>A NM_001354619.2:c.669T>C
MLH1 transcript variant 12 NM_001354619.1:c.669= NM_001354619.1:c.669T>A NM_001354619.1:c.669T>C
MLH1 transcript variant 11 NM_001354618.2:c.669= NM_001354618.2:c.669T>A NM_001354618.2:c.669T>C
MLH1 transcript variant 11 NM_001354618.1:c.669= NM_001354618.1:c.669T>A NM_001354618.1:c.669T>C
MLH1 transcript variant 15 NM_001354622.2:c.369= NM_001354622.2:c.369T>A NM_001354622.2:c.369T>C
MLH1 transcript variant 15 NM_001354622.1:c.369= NM_001354622.1:c.369T>A NM_001354622.1:c.369T>C
MLH1 transcript variant 16 NM_001354623.2:c.369= NM_001354623.2:c.369T>A NM_001354623.2:c.369T>C
MLH1 transcript variant 16 NM_001354623.1:c.369= NM_001354623.1:c.369T>A NM_001354623.1:c.369T>C
MLH1 transcript variant 14 NM_001354621.2:c.369= NM_001354621.2:c.369T>A NM_001354621.2:c.369T>C
MLH1 transcript variant 14 NM_001354621.1:c.369= NM_001354621.1:c.369T>A NM_001354621.1:c.369T>C
MLH1 transcript variant 10 NM_001354617.2:c.669= NM_001354617.2:c.669T>A NM_001354617.2:c.669T>C
MLH1 transcript variant 10 NM_001354617.1:c.669= NM_001354617.1:c.669T>A NM_001354617.1:c.669T>C
MLH1 transcript variant 13 NM_001354620.2:c.1098= NM_001354620.2:c.1098T>A NM_001354620.2:c.1098T>C
MLH1 transcript variant 13 NM_001354620.1:c.1098= NM_001354620.1:c.1098T>A NM_001354620.1:c.1098T>C
MLH1 transcript variant 20 NM_001354627.2:c.318= NM_001354627.2:c.318T>A NM_001354627.2:c.318T>C
MLH1 transcript variant 20 NM_001354627.1:c.318= NM_001354627.1:c.318T>A NM_001354627.1:c.318T>C
MLH1 transcript variant 6 NM_001258273.2:c.669= NM_001258273.2:c.669T>A NM_001258273.2:c.669T>C
MLH1 transcript variant 6 NM_001258273.1:c.669= NM_001258273.1:c.669T>A NM_001258273.1:c.669T>C
MLH1 transcript variant 21 NM_001354628.2:c.1392= NM_001354628.2:c.1392T>A NM_001354628.2:c.1392T>C
MLH1 transcript variant 21 NM_001354628.1:c.1392= NM_001354628.1:c.1392T>A NM_001354628.1:c.1392T>C
MLH1 transcript variant 9 NM_001354616.2:c.669= NM_001354616.2:c.669T>A NM_001354616.2:c.669T>C
MLH1 transcript variant 9 NM_001354616.1:c.669= NM_001354616.1:c.669T>A NM_001354616.1:c.669T>C
MLH1 transcript variant 8 NM_001354615.2:c.669= NM_001354615.2:c.669T>A NM_001354615.2:c.669T>C
MLH1 transcript variant 8 NM_001354615.1:c.669= NM_001354615.1:c.669T>A NM_001354615.1:c.669T>C
MLH1 transcript variant 22 NM_001354629.2:c.1293= NM_001354629.2:c.1293T>A NM_001354629.2:c.1293T>C
MLH1 transcript variant 22 NM_001354629.1:c.1293= NM_001354629.1:c.1293T>A NM_001354629.1:c.1293T>C
MLH1 transcript variant 23 NM_001354630.2:c.1392= NM_001354630.2:c.1392T>A NM_001354630.2:c.1392T>C
MLH1 transcript variant 23 NM_001354630.1:c.1392= NM_001354630.1:c.1392T>A NM_001354630.1:c.1392T>C
MLH1 transcript variant 5 NM_001258271.2:c.1392= NM_001258271.2:c.1392T>A NM_001258271.2:c.1392T>C
MLH1 transcript variant 5 NM_001258271.1:c.1392= NM_001258271.1:c.1392T>A NM_001258271.1:c.1392T>C
MLH1 transcript variant 17 NM_001354624.2:c.318= NM_001354624.2:c.318T>A NM_001354624.2:c.318T>C
MLH1 transcript variant 17 NM_001354624.1:c.318= NM_001354624.1:c.318T>A NM_001354624.1:c.318T>C
MLH1 transcript variant 19 NM_001354626.2:c.318= NM_001354626.2:c.318T>A NM_001354626.2:c.318T>C
MLH1 transcript variant 19 NM_001354626.1:c.318= NM_001354626.1:c.318T>A NM_001354626.1:c.318T>C
MLH1 transcript variant 18 NM_001354625.2:c.318= NM_001354625.2:c.318T>A NM_001354625.2:c.318T>C
MLH1 transcript variant 18 NM_001354625.1:c.318= NM_001354625.1:c.318T>A NM_001354625.1:c.318T>C
MLH1 transcript variant X2 XM_005265161.3:c.1185= XM_005265161.3:c.1185T>A XM_005265161.3:c.1185T>C
MLH1 transcript variant X1 XM_005265161.2:c.1185= XM_005265161.2:c.1185T>A XM_005265161.2:c.1185T>C
MLH1 transcript variant X1 XM_005265161.1:c.1185= XM_005265161.1:c.1185T>A XM_005265161.1:c.1185T>C
MLH1 transcript variant X4 XM_047448154.1:c.669= XM_047448154.1:c.669T>A XM_047448154.1:c.669T>C
MLH1 transcript variant X1 XM_047448152.1:c.1293= XM_047448152.1:c.1293T>A XM_047448152.1:c.1293T>C
MLH1 transcript variant X3 XM_047448153.1:c.669= XM_047448153.1:c.669T>A XM_047448153.1:c.669T>C
MLH1 transcript variant X5 XM_047448155.1:c.669= XM_047448155.1:c.669T>A XM_047448155.1:c.669T>C
DNA mismatch repair protein Mlh1 isoform 1 NP_000240.1:p.Pro464= NP_000240.1:p.Pro464= NP_000240.1:p.Pro464=
DNA mismatch repair protein Mlh1 isoform 3 NP_001245203.1:p.Pro223= NP_001245203.1:p.Pro223= NP_001245203.1:p.Pro223=
DNA mismatch repair protein Mlh1 isoform 3 NP_001161090.1:p.Pro223= NP_001161090.1:p.Pro223= NP_001161090.1:p.Pro223=
DNA mismatch repair protein Mlh1 isoform 2 NP_001161089.1:p.Pro366= NP_001161089.1:p.Pro366= NP_001161089.1:p.Pro366=
DNA mismatch repair protein Mlh1 isoform 3 NP_001161091.1:p.Pro223= NP_001161091.1:p.Pro223= NP_001161091.1:p.Pro223=
DNA mismatch repair protein Mlh1 isoform 3 NP_001341548.1:p.Pro223= NP_001341548.1:p.Pro223= NP_001341548.1:p.Pro223=
DNA mismatch repair protein Mlh1 isoform 3 NP_001341547.1:p.Pro223= NP_001341547.1:p.Pro223= NP_001341547.1:p.Pro223=
DNA mismatch repair protein Mlh1 isoform 5 NP_001341551.1:p.Pro123= NP_001341551.1:p.Pro123= NP_001341551.1:p.Pro123=
DNA mismatch repair protein Mlh1 isoform 5 NP_001341552.1:p.Pro123= NP_001341552.1:p.Pro123= NP_001341552.1:p.Pro123=
DNA mismatch repair protein Mlh1 isoform 5 NP_001341550.1:p.Pro123= NP_001341550.1:p.Pro123= NP_001341550.1:p.Pro123=
DNA mismatch repair protein Mlh1 isoform 3 NP_001341546.1:p.Pro223= NP_001341546.1:p.Pro223= NP_001341546.1:p.Pro223=
DNA mismatch repair protein Mlh1 isoform 2 NP_001341549.1:p.Pro366= NP_001341549.1:p.Pro366= NP_001341549.1:p.Pro366=
DNA mismatch repair protein Mlh1 isoform 6 NP_001341556.1:p.Pro106= NP_001341556.1:p.Pro106= NP_001341556.1:p.Pro106=
DNA mismatch repair protein Mlh1 isoform 3 NP_001245202.1:p.Pro223= NP_001245202.1:p.Pro223= NP_001245202.1:p.Pro223=
DNA mismatch repair protein Mlh1 isoform 7 NP_001341557.1:p.Pro464= NP_001341557.1:p.Pro464= NP_001341557.1:p.Pro464=
DNA mismatch repair protein Mlh1 isoform 3 NP_001341545.1:p.Pro223= NP_001341545.1:p.Pro223= NP_001341545.1:p.Pro223=
DNA mismatch repair protein Mlh1 isoform 3 NP_001341544.1:p.Pro223= NP_001341544.1:p.Pro223= NP_001341544.1:p.Pro223=
DNA mismatch repair protein Mlh1 isoform 8 NP_001341558.1:p.Pro431= NP_001341558.1:p.Pro431= NP_001341558.1:p.Pro431=
DNA mismatch repair protein Mlh1 isoform 9 NP_001341559.1:p.Pro464= NP_001341559.1:p.Pro464= NP_001341559.1:p.Pro464=
DNA mismatch repair protein Mlh1 isoform 4 NP_001245200.1:p.Pro464= NP_001245200.1:p.Pro464= NP_001245200.1:p.Pro464=
DNA mismatch repair protein Mlh1 isoform 6 NP_001341553.1:p.Pro106= NP_001341553.1:p.Pro106= NP_001341553.1:p.Pro106=
DNA mismatch repair protein Mlh1 isoform 6 NP_001341555.1:p.Pro106= NP_001341555.1:p.Pro106= NP_001341555.1:p.Pro106=
DNA mismatch repair protein Mlh1 isoform 6 NP_001341554.1:p.Pro106= NP_001341554.1:p.Pro106= NP_001341554.1:p.Pro106=
DNA mismatch repair protein Mlh1 isoform X2 XP_005265218.1:p.Pro395= XP_005265218.1:p.Pro395= XP_005265218.1:p.Pro395=
DNA mismatch repair protein Mlh1 isoform X3 XP_047304110.1:p.Pro223= XP_047304110.1:p.Pro223= XP_047304110.1:p.Pro223=
DNA mismatch repair protein Mlh1 isoform X1 XP_047304108.1:p.Pro431= XP_047304108.1:p.Pro431= XP_047304108.1:p.Pro431=
DNA mismatch repair protein Mlh1 isoform X3 XP_047304109.1:p.Pro223= XP_047304109.1:p.Pro223= XP_047304109.1:p.Pro223=
DNA mismatch repair protein Mlh1 isoform X3 XP_047304111.1:p.Pro223= XP_047304111.1:p.Pro223= XP_047304111.1:p.Pro223=
Help

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#.

9 SubSNP, 6 Frequency, 6 ClinVar submissions
No Submitter Submission ID Date (Build)
1 MMR_WOODS ss538293385 Oct 24, 2012 (137)
2 NHLBI-ESP ss712509365 Apr 25, 2013 (138)
3 EVA_EXAC ss1686921101 Apr 01, 2015 (144)
4 GNOMAD ss2733621825 Nov 08, 2017 (151)
5 GNOMAD ss2746969937 Nov 08, 2017 (151)
6 GNOMAD ss2791694971 Nov 08, 2017 (151)
7 EVA ss3823894954 Apr 25, 2020 (154)
8 TOPMED ss4560824896 Apr 27, 2021 (155)
9 EVA ss5935639282 Oct 13, 2022 (156)
10 ExAC NC_000003.11 - 37067481 Oct 12, 2018 (152)
11 gnomAD - Genomes NC_000003.12 - 37025990 Apr 27, 2021 (155)
12 gnomAD - Exomes NC_000003.11 - 37067481 Jul 13, 2019 (153)
13 GO Exome Sequencing Project NC_000003.11 - 37067481 Oct 12, 2018 (152)
14 TopMed NC_000003.12 - 37025990 Apr 27, 2021 (155)
15 ALFA NC_000003.12 - 37025990 Apr 27, 2021 (155)
16 ClinVar RCV000075186.6 Apr 25, 2020 (154)
17 ClinVar RCV000162675.3 Oct 13, 2022 (156)
18 ClinVar RCV000524236.7 Oct 13, 2022 (156)
19 ClinVar RCV000987176.1 Apr 25, 2020 (154)
20 ClinVar RCV001192574.1 Apr 27, 2021 (155)
21 ClinVar RCV001284162.5 Oct 13, 2022 (156)
Help

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
ss5935639282 NC_000003.11:37067480:T:A NC_000003.12:37025989:T:A
6839332, 2695689, 353315, ss712509365, ss1686921101, ss2733621825, ss2746969937, ss2791694971, ss3823894954, ss5935639282 NC_000003.11:37067480:T:C NC_000003.12:37025989:T:C (self)
RCV000075186.6, RCV000162675.3, RCV000524236.7, RCV000987176.1, RCV001192574.1, RCV001284162.5, 104562983, 398202451, 6586295475, ss538293385, ss4560824896 NC_000003.12:37025989:T:C NC_000003.12:37025989:T:C (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs63750201

Help

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
Top Help

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