Linked Data
ClinVar Variation Id:
1371590
ClinVar RCV Id:
RCV001879071
dbSNP Id:
rs776022988
COSMIC:
COSM5615325
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93874340C>A , CM000665.2:g.93874340C>A | GRCh38 |
| NC_000003.11:g.93593184C>A , CM000665.1:g.93593184C>A | GRCh37 |
| NC_000003.10:g.95075874C>A | NCBI36 |
| NG_009813.1:g.104751G>T , LRG_572:g.104751G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.1936G>T | ENSP00000330021.7:p.Gly646Cys | |
| ENST00000394236.9:c.1936G>T MANE Select | ENSP00000377783.3:p.Gly646Cys | |
| ENST00000407433.6:c.1891G>T | ENSP00000385794.2:p.Gly631Cys | |
| ENST00000647936.1:c.*39G>T | ENSP00000496822.1:n.*39G>T | |
| ENST00000648381.1:n.2104G>T | ||
| ENST00000648853.1:c.1894G>T | ENSP00000497262.1:p.Gly632Cys | |
| ENST00000650591.1:c.2032G>T | ENSP00000497376.1:p.Gly678Cys | |
| ENST00000394236.7:c.1936G>T | ENSP00000377783.3:p.Gly646Cys | |
| ENST00000407433.5:c.1543G>T | ENSP00000385794.1:p.Gly515Cys | |
| NM_000313.3:c.1936G>T , LRG_572t1:c.1936G>T | NP_000304.2:p.Gly646Cys | |
| NM_001314077.1:c.2032G>T , LRG_572t2:c.2032G>T | NP_001301006.1:p.Gly678Cys | |
| NM_000313.4:c.1936G>T MANE Select | NP_000304.2:p.Gly646Cys | |
| NM_001314077.2:c.2032G>T | NP_001301006.1:p.Gly678Cys |