HGVS | Genome Assembly |
---|---|
NC_000010.11:g.70435535C>A , CM000672.2:g.70435535C>A | GRCh38 |
NC_000010.10:g.72195291C>A , CM000672.1:g.72195291C>A | GRCh37 |
NC_000010.9:g.71865297C>A | NCBI36 |
NG_012448.1:g.11175G>T | |
NG_012448.2:g.17414G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000287139.8:c.642G>T MANE Select | ENSP00000287139.3:p.Trp214Cys | |
ENST00000287139.7:c.642G>T | ENSP00000287139.3:p.Trp214Cys | |
ENST00000414871.1:c.477G>T | ENSP00000394468.1:p.Trp159Cys | |
NM_018055.4:c.642G>T | NP_060525.3:p.Trp214Cys | |
NM_001329906.1:c.243G>T | NP_001316835.1:p.Trp81Cys | |
XM_024448028.1:c.243G>T | XP_024303796.1:p.Trp81Cys | |
NM_018055.5:c.642G>T MANE Select | NP_060525.3:p.Trp214Cys | |
NM_001329906.2:c.243G>T | NP_001316835.1:p.Trp81Cys |