Linked Data
ClinVar Variation Id:
492768
ClinVar RCV Id:
RCV000584396
dbSNP Id:
rs1553282666
COSMIC:
COSM2096143
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.180266502G>A , CM000663.2:g.180266502G>A | GRCh38 |
| NC_000001.10:g.180235637G>A , CM000663.1:g.180235637G>A | GRCh37 |
| NC_000001.9:g.178502260G>A | NCBI36 |
| NG_008081.1:g.41196G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263726.4:c.359G>A MANE Select | ENSP00000263726.2:p.Cys120Tyr | |
| ENST00000263726.3:c.359G>A | ENSP00000263726.2:p.Cys120Tyr | |
| ENST00000561113.1:c.296G>A | ||
| NM_033343.3:c.359G>A | NP_203129.1:p.Cys120Tyr | |
| XM_011510105.1:c.176G>A | XP_011508407.1:p.Cys59Tyr | |
| XM_011510106.1:c.176G>A | XP_011508408.1:p.Cys59Tyr | |
| XM_011510107.1:c.134G>A | XP_011508409.1:p.Cys45Tyr | |
| XM_011510108.1:c.134G>A | XP_011508410.1:p.Cys45Tyr | |
| XM_011510105.2:c.176G>A | XP_011508407.1:p.Cys59Tyr | |
| XM_011510106.3:c.176G>A | XP_011508408.1:p.Cys59Tyr | |
| XM_011510108.2:c.134G>A | XP_011508410.1:p.Cys45Tyr | |
| XM_017002755.1:c.134G>A | XP_016858244.1:p.Cys45Tyr | |
| NM_033343.4:c.359G>A MANE Select | NP_203129.1:p.Cys120Tyr |