Linked Data
ClinVar Variation Id:
7488
dbSNP Id:
rs113993970
ExAC:
10:124266333 C / T
gnomAD v2:
10-124266333-C-T
gnomAD v3:
10-122506817-C-T
gnomAD v4:
10-122506817-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506817C>T , CM000672.2:g.122506817C>T | GRCh38 |
| NC_000010.10:g.124266333C>T , CM000672.1:g.124266333C>T | GRCh37 |
| NC_000010.9:g.124256323C>T | NCBI36 |
| NG_011554.1:g.50293C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368984.8:c.904C>T MANE Select | ENSP00000357980.3:p.Arg302Ter | |
| ENST00000648167.1:c.586C>T | ENSP00000498033.1:p.Arg196Ter | |
| ENST00000368984.7:c.904C>T | ENSP00000357980.3:p.Arg302Ter | |
| ENST00000420892.1:c.127C>T | ENSP00000412676.1:p.Arg43Ter | |
| NM_002775.4:c.904C>T | NP_002766.1:p.Arg302Ter | |
| NM_002775.5:c.904C>T MANE Select | NP_002766.1:p.Arg302Ter |