Linked Data
ClinVar Variation Id:
21324
ClinVar RCV Id:
RCV001522700
dbSNP Id:
rs1049331
ExAC:
10:124221270 C / T
gnomAD v2:
10-124221270-C-T
gnomAD v3:
10-122461754-C-T
gnomAD v4:
10-122461754-C-T
PubMed:
PMID:20437615
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461754C>T , CM000672.2:g.122461754C>T | GRCh38 |
| NC_000010.10:g.124221270C>T , CM000672.1:g.124221270C>T | GRCh37 |
| NC_000010.9:g.124211260C>T | NCBI36 |
| NG_011554.1:g.5230C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368984.8:c.102C>T MANE Select | ENSP00000357980.3:p.Ala34= | |
| ENST00000648167.1:c.154+3045C>T | ENSP00000498033.1:n.154+3045C>T | |
| ENST00000368984.7:c.102C>T | ENSP00000357980.3:p.Ala34= | |
| NM_002775.4:c.102C>T | NP_002766.1:p.Ala34= | |
| NM_002775.5:c.102C>T MANE Select | NP_002766.1:p.Ala34= |