HGVS | Genome Assembly |
---|---|
NC_000024.10:g.20759874C>T , CM000686.2:g.20759874C>T | GRCh38 |
NC_000024.9:g.22921760C>T , CM000686.1:g.22921760C>T | GRCh37 |
NC_000024.8:g.21331148C>T | NCBI36 |
NG_032924.1:g.8807C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000629237.2:c.88C>T MANE Select | ENSP00000486252.1:p.Arg30Cys | |
ENST00000629237.1:c.88C>T | ENSP00000486252.1:p.Arg30Cys | |
NM_001039567.2:c.88C>T | NP_001034656.1:p.Arg30Cys | |
XM_011531423.1:c.37C>T | XP_011529725.1:p.Arg13Cys | |
NM_001039567.3:c.88C>T MANE Select | NP_001034656.1:p.Arg30Cys |