Linked Data
ClinVar Variation Id:
296827
ClinVar RCV Id:
RCV000367459
dbSNP Id:
rs780393850
ExAC:
1:24122706 T / C
gnomAD v2:
1-24122706-T-C
gnomAD v3:
1-23796216-T-C
gnomAD v4:
1-23796216-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23796216T>C , CM000663.2:g.23796216T>C | GRCh38 |
| NC_000001.10:g.24122706T>C , CM000663.1:g.24122706T>C | GRCh37 |
| NC_000001.9:g.23995293T>C | NCBI36 |
| NG_007068.1:g.9589A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617979.5:c.923A>G MANE Select | ENSP00000483375.1:p.Tyr308Cys | |
| ENST00000374497.7:c.923A>G | ENSP00000363621.3:p.Tyr308Cys | |
| ENST00000429356.5:c.653A>G | ENSP00000398585.1:p.Tyr218Cys | |
| ENST00000456977.5:c.203A>G | ENSP00000397045.1:p.Tyr68Cys | |
| ENST00000459934.5:n.1151A>G | ||
| ENST00000469556.1:n.670A>G | ||
| ENST00000481736.5:n.1327A>G | ||
| ENST00000617979.4:c.923A>G | ENSP00000483375.1:p.Tyr308Cys | |
| NM_000403.3:c.923A>G | NP_000394.2:p.Tyr308Cys | |
| NM_001008216.1:c.923A>G | NP_001008217.1:p.Tyr308Cys | |
| NM_001127621.1:c.923A>G | NP_001121093.1:p.Tyr308Cys | |
| NM_001008216.2:c.923A>G MANE Select | NP_001008217.1:p.Tyr308Cys | |
| NM_000403.4:c.923A>G | NP_000394.2:p.Tyr308Cys | |
| NM_001127621.2:c.923A>G | NP_001121093.1:p.Tyr308Cys |