Linked Data
dbSNP Id:
rs758640593
ExAC:
1:64089339 C / T
gnomAD v2:
1-64089339-C-T
gnomAD v4:
1-63623668-C-T
COSMIC:
COSM5053634
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63623668C>T , CM000663.2:g.63623668C>T | GRCh38 |
| NC_000001.10:g.64089339C>T , CM000663.1:g.64089339C>T | GRCh37 |
| NC_000001.9:g.63861927C>T | NCBI36 |
| NG_016966.1:g.35393C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.247-5757C>T MANE Select | ENSP00000360125.3:n.247-5757C>T | |
| ENST00000650546.1:c.247-5757C>T | ENSP00000497812.1:n.247-5757C>T | |
| ENST00000371083.4:c.208C>T | ENSP00000360124.4:p.Arg70Cys | |
| ENST00000371084.7:c.247-5757C>T | ENSP00000360125.3:n.247-5757C>T | |
| ENST00000540265.5:c.-345-5757C>T | ENSP00000443449.1:n.-345-5757C>T | |
| NM_001172818.1:c.208C>T | NP_001166289.1:p.Arg70Cys | |
| NM_001172819.1:c.-345-5757C>T | NP_001166290.1:n.-345-5757C>T | |
| NM_002633.2:c.247-5757C>T | NP_002624.2:n.247-5757C>T | |
| NM_002633.3:c.247-5757C>T MANE Select | NP_002624.2:n.247-5757C>T | |
| NM_001172819.2:c.-345-5757C>T | NP_001166290.1:n.-345-5757C>T |