HGVS | Genome Assembly |
---|---|
NC_000001.11:g.109066220A>T , CM000663.2:g.109066220A>T | GRCh38 |
NC_000001.10:g.109608842A>T , CM000663.1:g.109608842A>T | GRCh37 |
NC_000001.9:g.109410365A>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000461096.7:c.5T>A | ENSP00000433883.2:p.Met2Lys | |
ENST00000692048.1:c.119T>A | ENSP00000508876.1:p.Met40Lys | |
ENST00000338366.6:c.119T>A MANE Select | ENSP00000355051.4:p.Met40Lys | |
ENST00000338366.5:c.119T>A | ENSP00000355051.4:p.Met40Lys | |
ENST00000461096.6:c.119T>A | ENSP00000433883.1:p.Met40Lys | |
NM_005645.3:c.119T>A | NP_005636.1:p.Met40Lys | |
NM_005645.4:c.119T>A MANE Select | NP_005636.1:p.Met40Lys |