HGVS | Genome Assembly |
---|---|
NC_000005.10:g.173232833G>T , CM000667.2:g.173232833G>T | GRCh38 |
NC_000005.9:g.172659836G>T , CM000667.1:g.172659836G>T | GRCh37 |
NC_000005.8:g.172592442G>T | NCBI36 |
NG_013340.1:g.7480C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329198.5:c.711C>A MANE Select | ENSP00000327758.4:p.Tyr237Ter | |
ENST00000329198.4:c.711C>A | ENSP00000327758.4:p.Tyr237Ter | |
NM_001166175.1:c.*664C>A | NP_001159647.1:n.*664C>A | |
NM_001166176.1:c.*510C>A | NP_001159648.1:n.*510C>A | |
NM_004387.3:c.711C>A | NP_004378.1:p.Tyr237Ter | |
NM_004387.4:c.711C>A MANE Select | NP_004378.1:p.Tyr237Ter | |
NM_001166175.2:c.*664C>A | NP_001159647.1:n.*664C>A | |
NM_001166176.2:c.*510C>A | NP_001159648.1:n.*510C>A |