HGVS | Genome Assembly |
---|---|
NC_000009.12:g.27212710A>G , CM000671.2:g.27212710A>G | GRCh38 |
NC_000009.11:g.27212708A>G , CM000671.1:g.27212708A>G | GRCh37 |
NC_000009.10:g.27202708A>G | NCBI36 |
NG_011828.1:g.108562A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380036.10:c.2690A>G MANE Select | ENSP00000369375.4:p.Tyr897Cys | |
ENST00000380036.8:c.2690A>G | ENSP00000369375.4:p.Tyr897Cys | |
ENST00000406359.8:c.2561A>G | ENSP00000383977.4:p.Tyr854Cys | |
ENST00000519097.5:c.2246A>G | ENSP00000430686.1:p.Tyr749Cys | |
ENST00000615002.4:c.*1191A>G | ENSP00000480251.1:n.*1191A>G | |
NM_000459.4:c.2690A>G | NP_000450.2:p.Tyr897Cys | |
NM_001290077.1:c.2561A>G | NP_001277006.1:p.Tyr854Cys | |
NM_001290078.1:c.2246A>G | NP_001277007.1:p.Tyr749Cys | |
XM_005251561.1:c.2687A>G | XP_005251618.1:p.Tyr896Cys | |
XM_005251563.1:c.2558A>G | XP_005251620.1:p.Tyr853Cys | |
XM_005251561.2:c.2687A>G | XP_005251618.1:p.Tyr896Cys | |
XM_005251563.2:c.2558A>G | XP_005251620.1:p.Tyr853Cys | |
NM_000459.5:c.2690A>G MANE Select | NP_000450.3:p.Tyr897Cys | |
NM_001375475.1:c.2687A>G | NP_001362404.1:p.Tyr896Cys | |
NM_001375476.1:c.2558A>G | NP_001362405.1:p.Tyr853Cys |