Linked Data
ClinVar Variation Id:
31656
ClinVar RCV Id:
RCV000024350
dbSNP Id:
rs387907188
PubMed:
PMID:21965549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92448806T>C , CM000669.2:g.92448806T>C | GRCh38 |
| NC_000007.13:g.92078120T>C , CM000669.1:g.92078120T>C | GRCh37 |
| NC_000007.12:g.91916056T>C | NCBI36 |
| NG_032807.1:g.6359T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287957.5:c.304T>C MANE Select | ENSP00000287957.3:p.Ser102Pro | |
| ENST00000644160.1:n.160T>C | ||
| ENST00000645746.1:c.304T>C | ENSP00000493785.1:p.Ser102Pro | |
| ENST00000287957.3:c.304T>C | ENSP00000287957.3:p.Ser102Pro | |
| NM_021167.4:c.304T>C | NP_066990.3:p.Ser102Pro | |
| NR_052016.1:n.586T>C | ||
| XR_428182.2:n.559T>C | ||
| XR_927494.1:n.559T>C | ||
| XR_927495.1:n.559T>C | ||
| XR_927496.1:n.559T>C | ||
| XR_927497.1:n.559T>C | ||
| XR_927498.1:n.559T>C | ||
| XR_927499.1:n.559T>C | ||
| XR_927500.1:n.559T>C | ||
| XR_927501.1:n.559T>C | ||
| XR_927502.1:n.559T>C | ||
| XR_927503.1:n.559T>C | ||
| XR_927504.1:n.559T>C | ||
| XR_001744842.2:n.586T>C | ||
| XR_001744843.2:n.586T>C | ||
| XR_002956472.1:n.586T>C | ||
| XR_002956473.1:n.586T>C | ||
| XR_002956474.1:n.586T>C | ||
| XR_002956475.1:n.552T>C | ||
| XR_002956476.1:n.552T>C | ||
| XR_927494.3:n.586T>C | ||
| XR_927500.3:n.586T>C | ||
| XR_927503.3:n.586T>C | ||
| NM_021167.5:c.304T>C MANE Select | NP_066990.3:p.Ser102Pro | |
| NR_052016.2:n.552T>C |