HGVS | Genome Assembly |
---|---|
NC_000010.11:g.70435438A>T , CM000672.2:g.70435438A>T | GRCh38 |
NC_000010.10:g.72195194A>T , CM000672.1:g.72195194A>T | GRCh37 |
NC_000010.9:g.71865200A>T | NCBI36 |
NG_012448.1:g.11272T>A | |
NG_012448.2:g.17511T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000287139.8:c.739T>A MANE Select | ENSP00000287139.3:p.Cys247Ser | |
ENST00000287139.7:c.739T>A | ENSP00000287139.3:p.Cys247Ser | |
ENST00000414871.1:c.574T>A | ENSP00000394468.1:p.Cys192Ser | |
NM_018055.4:c.739T>A | NP_060525.3:p.Cys247Ser | |
NM_001329906.1:c.340T>A | NP_001316835.1:p.Cys114Ser | |
XM_024448028.1:c.340T>A | XP_024303796.1:p.Cys114Ser | |
NM_018055.5:c.739T>A MANE Select | NP_060525.3:p.Cys247Ser | |
NM_001329906.2:c.340T>A | NP_001316835.1:p.Cys114Ser |