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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.

rs748650244

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:127428886 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000019 (5/264690, TOPMED)
T=0.000040 (10/250574, GnomAD_exome)
T=0.000014 (2/140236, GnomAD) (+ 4 more)
T=0.000033 (4/120732, ExAC)
T=0.00000 (0/14050, ALFA)
G=0.0000 (0/3854, ALSPAC)
G=0.0003 (1/3708, TWINSUK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PROC : Synonymous Variant
LOC105373608 : Intron 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 30406 C=0.99997 T=0.00003
European Sub 19774 C=1.00000 T=0.00000
African Sub 7736 C=0.9999 T=0.0001
African Others Sub 298 C=1.000 T=0.000
African American Sub 7438 C=0.9999 T=0.0001
Asian Sub 112 C=1.000 T=0.000
East Asian Sub 86 C=1.00 T=0.00
Other Asian Sub 26 C=1.00 T=0.00
Latin American 1 Sub 146 C=1.000 T=0.000
Latin American 2 Sub 610 C=1.000 T=0.000
South Asian Sub 98 C=1.00 T=0.00
Other Sub 1930 C=1.0000 T=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 C=0.999981 T=0.000019
gnomAD - Exomes Global Study-wide 250574 C=0.999960 T=0.000040
gnomAD - Exomes European Sub 134588 C=0.999985 T=0.000015
gnomAD - Exomes Asian Sub 49002 C=0.99986 T=0.00014
gnomAD - Exomes American Sub 34582 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 16244 C=0.99994 T=0.00006
gnomAD - Exomes Ashkenazi Jewish Sub 10038 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6120 C=1.0000 T=0.0000
gnomAD - Genomes Global Study-wide 140236 C=0.999986 T=0.000014
gnomAD - Genomes European Sub 75938 C=1.00000 T=0.00000
gnomAD - Genomes African Sub 42034 C=0.99995 T=0.00005
gnomAD - Genomes American Sub 13652 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3134 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2154 C=1.0000 T=0.0000
ExAC Global Study-wide 120732 C=0.999967 T=0.000033
ExAC Europe Sub 72838 C=0.99999 T=0.00001
ExAC Asian Sub 25124 C=0.99992 T=0.00008
ExAC American Sub 11568 C=1.00000 T=0.00000
ExAC African Sub 10304 C=0.99990 T=0.00010
ExAC Other Sub 898 C=1.000 T=0.000
Allele Frequency Aggregator Total Global 14050 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=0.00
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=1.0000 G=0.0000
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9997 G=0.0003
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 2 NC_000002.12:g.127428886C>G
GRCh38.p14 chr 2 NC_000002.12:g.127428886C>T
GRCh37.p13 chr 2 NC_000002.11:g.128186462C>G
GRCh37.p13 chr 2 NC_000002.11:g.128186462C>T
PROC RefSeqGene (LRG_599) NG_016323.1:g.15467C>G
PROC RefSeqGene (LRG_599) NG_016323.1:g.15467C>T
Gene: PROC, protein C, inactivator of coagulation factors Va and VIIIa (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PROC transcript variant 7 NM_001375610.1:c.1320C>G L [CTC] > L [CTG] Coding Sequence Variant
vitamin K-dependent protein C isoform 7 preproprotein NP_001362539.1:p.Leu440= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant 7 NM_001375610.1:c.1320C>T L [CTC] > L [CTT] Coding Sequence Variant
vitamin K-dependent protein C isoform 7 preproprotein NP_001362539.1:p.Leu440= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant 12 NM_001375613.1:c.1326C>G L [CTC] > L [CTG] Coding Sequence Variant
vitamin K-dependent protein C isoform 10 preproprotein NP_001362542.1:p.Leu442= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant 12 NM_001375613.1:c.1326C>T L [CTC] > L [CTT] Coding Sequence Variant
vitamin K-dependent protein C isoform 10 preproprotein NP_001362542.1:p.Leu442= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant 6 NM_001375604.1:c.1389C>G L [CTC] > L [CTG] Coding Sequence Variant
vitamin K-dependent protein C isoform 6 precursor NP_001362533.1:p.Leu463= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant 6 NM_001375604.1:c.1389C>T L [CTC] > L [CTT] Coding Sequence Variant
vitamin K-dependent protein C isoform 6 precursor NP_001362533.1:p.Leu463= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant 11 NM_001375611.1:c.1326C>G L [CTC] > L [CTG] Coding Sequence Variant
vitamin K-dependent protein C isoform 10 preproprotein NP_001362540.1:p.Leu442= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant 11 NM_001375611.1:c.1326C>T L [CTC] > L [CTT] Coding Sequence Variant
vitamin K-dependent protein C isoform 10 preproprotein NP_001362540.1:p.Leu442= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant 3 NM_001375606.1:c.1494C>G L [CTC] > L [CTG] Coding Sequence Variant
vitamin K-dependent protein C isoform 3 precursor NP_001362535.1:p.Leu498= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant 3 NM_001375606.1:c.1494C>T L [CTC] > L [CTT] Coding Sequence Variant
vitamin K-dependent protein C isoform 3 precursor NP_001362535.1:p.Leu498= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant 9 NM_001375608.1:c.1269C>G L [CTC] > L [CTG] Coding Sequence Variant
vitamin K-dependent protein C isoform 9 precursor NP_001362537.1:p.Leu423= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant 9 NM_001375608.1:c.1269C>T L [CTC] > L [CTT] Coding Sequence Variant
vitamin K-dependent protein C isoform 9 precursor NP_001362537.1:p.Leu423= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant 1 NM_001375607.1:c.1512C>G L [CTC] > L [CTG] Coding Sequence Variant
vitamin K-dependent protein C isoform 1 NP_001362536.1:p.Leu504= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant 1 NM_001375607.1:c.1512C>T L [CTC] > L [CTT] Coding Sequence Variant
vitamin K-dependent protein C isoform 1 NP_001362536.1:p.Leu504= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant 8 NM_001375609.1:c.1302C>G L [CTC] > L [CTG] Coding Sequence Variant
vitamin K-dependent protein C isoform 8 NP_001362538.1:p.Leu434= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant 8 NM_001375609.1:c.1302C>T L [CTC] > L [CTT] Coding Sequence Variant
vitamin K-dependent protein C isoform 8 NP_001362538.1:p.Leu434= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant 4 NM_001375603.1:c.1491C>G L [CTC] > L [CTG] Coding Sequence Variant
vitamin K-dependent protein C isoform 4 precursor NP_001362532.1:p.Leu497= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant 4 NM_001375603.1:c.1491C>T L [CTC] > L [CTT] Coding Sequence Variant
vitamin K-dependent protein C isoform 4 precursor NP_001362532.1:p.Leu497= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant 5 NM_001375605.1:c.1428C>G L [CTC] > L [CTG] Coding Sequence Variant
vitamin K-dependent protein C isoform 5 preproprotein NP_001362534.1:p.Leu476= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant 5 NM_001375605.1:c.1428C>T L [CTC] > L [CTT] Coding Sequence Variant
vitamin K-dependent protein C isoform 5 preproprotein NP_001362534.1:p.Leu476= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant 2 NM_001375602.1:c.1509C>G L [CTC] > L [CTG] Coding Sequence Variant
vitamin K-dependent protein C isoform 2 NP_001362531.1:p.Leu503= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant 2 NM_001375602.1:c.1509C>T L [CTC] > L [CTT] Coding Sequence Variant
vitamin K-dependent protein C isoform 2 NP_001362531.1:p.Leu503= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant 10 NM_000312.4:c.1326C>G L [CTC] > L [CTG] Coding Sequence Variant
vitamin K-dependent protein C isoform 10 preproprotein NP_000303.1:p.Leu442= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant 10 NM_000312.4:c.1326C>T L [CTC] > L [CTT] Coding Sequence Variant
vitamin K-dependent protein C isoform 10 preproprotein NP_000303.1:p.Leu442= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant X1 XM_024453002.2:c.1011C>G L [CTC] > L [CTG] Coding Sequence Variant
vitamin K-dependent protein C isoform X1 XP_024308770.2:p.Leu337= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant X1 XM_024453002.2:c.1011C>T L [CTC] > L [CTT] Coding Sequence Variant
vitamin K-dependent protein C isoform X1 XP_024308770.2:p.Leu337= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant X2 XM_024453003.2:c.1611C>G L [CTC] > L [CTG] Coding Sequence Variant
vitamin K-dependent protein C isoform X2 XP_024308771.1:p.Leu537= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant X2 XM_024453003.2:c.1611C>T L [CTC] > L [CTT] Coding Sequence Variant
vitamin K-dependent protein C isoform X2 XP_024308771.1:p.Leu537= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant X3 XM_017004505.2:c.759C>G L [CTC] > L [CTG] Coding Sequence Variant
vitamin K-dependent protein C isoform X3 XP_016859994.2:p.Leu253= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant X3 XM_017004505.2:c.759C>T L [CTC] > L [CTT] Coding Sequence Variant
vitamin K-dependent protein C isoform X3 XP_016859994.2:p.Leu253= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant X4 XM_047445117.1:c.1515C>G L [CTC] > L [CTG] Coding Sequence Variant
vitamin K-dependent protein C isoform X4 XP_047301073.1:p.Leu505= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant X4 XM_047445117.1:c.1515C>T L [CTC] > L [CTT] Coding Sequence Variant
vitamin K-dependent protein C isoform X4 XP_047301073.1:p.Leu505= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant X5 XM_047445118.1:c.1011C>G L [CTC] > L [CTG] Coding Sequence Variant
vitamin K-dependent protein C isoform X1 XP_047301074.1:p.Leu337= L (Leu) > L (Leu) Synonymous Variant
PROC transcript variant X5 XM_047445118.1:c.1011C>T L [CTC] > L [CTT] Coding Sequence Variant
vitamin K-dependent protein C isoform X1 XP_047301074.1:p.Leu337= L (Leu) > L (Leu) Synonymous Variant
Gene: LOC105373608, uncharacterized LOC105373608 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC105373608 transcript XR_007087228.1:n. N/A Intron 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: T (allele ID: 690738 )
ClinVar Accession Disease Names Clinical Significance
RCV000877532.9 Thrombophilia due to protein C deficiency, autosomal dominant Conflicting-Interpretations-Of-Pathogenicity
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 C= G T
GRCh38.p14 chr 2 NC_000002.12:g.127428886= NC_000002.12:g.127428886C>G NC_000002.12:g.127428886C>T
GRCh37.p13 chr 2 NC_000002.11:g.128186462= NC_000002.11:g.128186462C>G NC_000002.11:g.128186462C>T
PROC RefSeqGene (LRG_599) NG_016323.1:g.15467= NG_016323.1:g.15467C>G NG_016323.1:g.15467C>T
PROC transcript variant 10 NM_000312.4:c.1326= NM_000312.4:c.1326C>G NM_000312.4:c.1326C>T
PROC transcript variant 10 NM_000312.3:c.1326= NM_000312.3:c.1326C>G NM_000312.3:c.1326C>T
PROC transcript variant 12 NM_001375613.1:c.1326= NM_001375613.1:c.1326C>G NM_001375613.1:c.1326C>T
PROC transcript variant 1 NM_001375607.1:c.1512= NM_001375607.1:c.1512C>G NM_001375607.1:c.1512C>T
PROC transcript variant 2 NM_001375602.1:c.1509= NM_001375602.1:c.1509C>G NM_001375602.1:c.1509C>T
PROC transcript variant 5 NM_001375605.1:c.1428= NM_001375605.1:c.1428C>G NM_001375605.1:c.1428C>T
PROC transcript variant 3 NM_001375606.1:c.1494= NM_001375606.1:c.1494C>G NM_001375606.1:c.1494C>T
PROC transcript variant 4 NM_001375603.1:c.1491= NM_001375603.1:c.1491C>G NM_001375603.1:c.1491C>T
PROC transcript variant 11 NM_001375611.1:c.1326= NM_001375611.1:c.1326C>G NM_001375611.1:c.1326C>T
PROC transcript variant 6 NM_001375604.1:c.1389= NM_001375604.1:c.1389C>G NM_001375604.1:c.1389C>T
PROC transcript variant 7 NM_001375610.1:c.1320= NM_001375610.1:c.1320C>G NM_001375610.1:c.1320C>T
PROC transcript variant 9 NM_001375608.1:c.1269= NM_001375608.1:c.1269C>G NM_001375608.1:c.1269C>T
PROC transcript variant 8 NM_001375609.1:c.1302= NM_001375609.1:c.1302C>G NM_001375609.1:c.1302C>T
PROC transcript variant X2 XM_024453003.2:c.1611= XM_024453003.2:c.1611C>G XM_024453003.2:c.1611C>T
PROC transcript variant X2 XM_024453003.1:c.1611= XM_024453003.1:c.1611C>G XM_024453003.1:c.1611C>T
PROC transcript variant X1 XM_024453002.2:c.1011= XM_024453002.2:c.1011C>G XM_024453002.2:c.1011C>T
PROC transcript variant X1 XM_024453002.1:c.1671= XM_024453002.1:c.1671C>G XM_024453002.1:c.1671C>T
PROC transcript variant X3 XM_017004505.2:c.759= XM_017004505.2:c.759C>G XM_017004505.2:c.759C>T
PROC transcript variant X3 XM_017004505.1:c.1569= XM_017004505.1:c.1569C>G XM_017004505.1:c.1569C>T
PROC transcript variant X4 XM_047445117.1:c.1515= XM_047445117.1:c.1515C>G XM_047445117.1:c.1515C>T
PROC transcript variant X5 XM_047445118.1:c.1011= XM_047445118.1:c.1011C>G XM_047445118.1:c.1011C>T
vitamin K-dependent protein C isoform 10 preproprotein NP_000303.1:p.Leu442= NP_000303.1:p.Leu442= NP_000303.1:p.Leu442=
vitamin K-dependent protein C isoform 10 preproprotein NP_001362542.1:p.Leu442= NP_001362542.1:p.Leu442= NP_001362542.1:p.Leu442=
vitamin K-dependent protein C isoform 1 NP_001362536.1:p.Leu504= NP_001362536.1:p.Leu504= NP_001362536.1:p.Leu504=
vitamin K-dependent protein C isoform 2 NP_001362531.1:p.Leu503= NP_001362531.1:p.Leu503= NP_001362531.1:p.Leu503=
vitamin K-dependent protein C isoform 5 preproprotein NP_001362534.1:p.Leu476= NP_001362534.1:p.Leu476= NP_001362534.1:p.Leu476=
vitamin K-dependent protein C isoform 3 precursor NP_001362535.1:p.Leu498= NP_001362535.1:p.Leu498= NP_001362535.1:p.Leu498=
vitamin K-dependent protein C isoform 4 precursor NP_001362532.1:p.Leu497= NP_001362532.1:p.Leu497= NP_001362532.1:p.Leu497=
vitamin K-dependent protein C isoform 10 preproprotein NP_001362540.1:p.Leu442= NP_001362540.1:p.Leu442= NP_001362540.1:p.Leu442=
vitamin K-dependent protein C isoform 6 precursor NP_001362533.1:p.Leu463= NP_001362533.1:p.Leu463= NP_001362533.1:p.Leu463=
vitamin K-dependent protein C isoform 7 preproprotein NP_001362539.1:p.Leu440= NP_001362539.1:p.Leu440= NP_001362539.1:p.Leu440=
vitamin K-dependent protein C isoform 9 precursor NP_001362537.1:p.Leu423= NP_001362537.1:p.Leu423= NP_001362537.1:p.Leu423=
vitamin K-dependent protein C isoform 8 NP_001362538.1:p.Leu434= NP_001362538.1:p.Leu434= NP_001362538.1:p.Leu434=
vitamin K-dependent protein C isoform X2 XP_024308771.1:p.Leu537= XP_024308771.1:p.Leu537= XP_024308771.1:p.Leu537=
vitamin K-dependent protein C isoform X1 XP_024308770.2:p.Leu337= XP_024308770.2:p.Leu337= XP_024308770.2:p.Leu337=
vitamin K-dependent protein C isoform X3 XP_016859994.2:p.Leu253= XP_016859994.2:p.Leu253= XP_016859994.2:p.Leu253=
vitamin K-dependent protein C isoform X4 XP_047301073.1:p.Leu505= XP_047301073.1:p.Leu505= XP_047301073.1:p.Leu505=
vitamin K-dependent protein C isoform X1 XP_047301074.1:p.Leu337= XP_047301074.1:p.Leu337= XP_047301074.1:p.Leu337=
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#.

7 SubSNP, 7 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EVA_UK10K_ALSPAC ss1604525544 Apr 01, 2015 (144)
2 EVA_UK10K_TWINSUK ss1647519577 Apr 01, 2015 (144)
3 EVA_EXAC ss1686496875 Apr 01, 2015 (144)
4 GNOMAD ss2732959025 Nov 08, 2017 (151)
5 OMUKHERJEE_ADBS ss3646270399 Oct 11, 2018 (152)
6 GNOMAD ss4050309748 Apr 26, 2021 (155)
7 TOPMED ss4523083759 Apr 26, 2021 (155)
8 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 128186462 Oct 11, 2018 (152)
9 ExAC NC_000002.11 - 128186462 Oct 11, 2018 (152)
10 gnomAD - Genomes NC_000002.12 - 127428886 Apr 26, 2021 (155)
11 gnomAD - Exomes NC_000002.11 - 128186462 Jul 13, 2019 (153)
12 TopMed NC_000002.12 - 127428886 Apr 26, 2021 (155)
13 UK 10K study - Twins NC_000002.11 - 128186462 Oct 11, 2018 (152)
14 ALFA NC_000002.12 - 127428886 Apr 26, 2021 (155)
15 ClinVar RCV000877532.9 Oct 12, 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
5653351, 5653351, ss1604525544, ss1647519577 NC_000002.11:128186461:C:G NC_000002.12:127428885:C:G (self)
6382480, 2015947, ss1686496875, ss2732959025, ss3646270399 NC_000002.11:128186461:C:T NC_000002.12:127428885:C:T (self)
RCV000877532.9, 73018250, 326906638, 12185640392, ss4050309748, ss4523083759 NC_000002.12:127428885:C:T NC_000002.12:127428885:C:T (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 rs748650244

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
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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