HGVS | Genome Assembly |
---|---|
NC_000010.11:g.70435630G>A , CM000672.2:g.70435630G>A | GRCh38 |
NC_000010.10:g.72195386G>A , CM000672.1:g.72195386G>A | GRCh37 |
NC_000010.9:g.71865392G>A | NCBI36 |
NG_012448.1:g.11080C>T | |
NG_012448.2:g.17319C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000287139.8:c.547C>T MANE Select | ENSP00000287139.3:p.Arg183Trp | |
ENST00000287139.7:c.547C>T | ENSP00000287139.3:p.Arg183Trp | |
ENST00000414871.1:c.382C>T | ENSP00000394468.1:p.Arg128Trp | |
NM_018055.4:c.547C>T | NP_060525.3:p.Arg183Trp | |
NM_001329906.1:c.148C>T | NP_001316835.1:p.Arg50Trp | |
XM_024448028.1:c.148C>T | XP_024303796.1:p.Arg50Trp | |
NM_018055.5:c.547C>T MANE Select | NP_060525.3:p.Arg183Trp | |
NM_001329906.2:c.148C>T | NP_001316835.1:p.Arg50Trp |