HGVS | Genome Assembly |
---|---|
NC_000001.11:g.154571742C>A , CM000663.2:g.154571742C>A | GRCh38 |
NC_000001.10:g.154544218C>A , CM000663.1:g.154544218C>A | GRCh37 |
NC_000001.9:g.152810842C>A | NCBI36 |
NG_008027.1:g.8962C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368476.4:c.919C>A MANE Select | ENSP00000357461.3:p.Leu307Ile | |
ENST00000636034.1:c.919C>A | ENSP00000489703.1:p.Leu307Ile | |
ENST00000637900.1:c.925C>A | ENSP00000490474.1:p.Leu309Ile | |
ENST00000368476.3:c.919C>A | ENSP00000357461.3:p.Leu307Ile | |
NM_000748.2:c.919C>A | NP_000739.1:p.Leu307Ile | |
XM_017000180.2:c.409C>A | XP_016855669.1:p.Leu137Ile | |
XR_001736952.2:n.1171C>A | ||
NM_000748.3:c.919C>A MANE Select | NP_000739.1:p.Leu307Ile |