Linked Data
ClinVar Variation Id:
36983
ClinVar RCV Id:
RCV000030678
dbSNP Id:
rs373946181
gnomAD v4:
7-21705497-C-A
PubMed:
PMID:22102620
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21705497C>A , CM000669.2:g.21705497C>A | GRCh38 |
| NC_000007.13:g.21745115C>A , CM000669.1:g.21745115C>A | GRCh37 |
| NC_000007.12:g.21711640C>A | NCBI36 |
| NG_012886.2:g.167283C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.6506C>A MANE Select | ENSP00000475939.1:p.Ser2169Ter | |
| ENST00000328843.10:c.6527C>A | ENSP00000330671.7:p.Ser2176Ter | |
| ENST00000409508.7:c.6506C>A | ENSP00000475939.1:p.Ser2169Ter | |
| ENST00000620169.4:c.6527C>A | ENSP00000481693.1:p.Ser2176Ter | |
| NM_001277115.1:c.6506C>A | NP_001264044.1:p.Ser2169Ter | |
| NM_001277115.2:c.6506C>A MANE Select | NP_001264044.1:p.Ser2169Ter |