Linked Data
ClinVar Variation Id:
3050934
ClinVar RCV Id:
RCV003957038
dbSNP Id:
rs141925572
ExAC:
10:124266269 C / T
gnomAD v2:
10-124266269-C-T
gnomAD v3:
10-122506753-C-T
gnomAD v4:
10-122506753-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506753C>T , CM000672.2:g.122506753C>T | GRCh38 |
| NC_000010.10:g.124266269C>T , CM000672.1:g.124266269C>T | GRCh37 |
| NC_000010.9:g.124256259C>T | NCBI36 |
| NG_011554.1:g.50229C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.840C>T MANE Select | ENSP00000357980.3:p.Val280= | |
| ENST00000648167.1:c.522C>T | ENSP00000498033.1:p.Val174= | |
| ENST00000368984.7:c.840C>T | ENSP00000357980.3:p.Val280= | |
| ENST00000420892.1:c.63C>T | ENSP00000412676.1:p.Val21= | |
| NM_002775.4:c.840C>T | NP_002766.1:p.Val280= | |
| NM_002775.5:c.840C>T MANE Select | NP_002766.1:p.Val280= |