HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232523855T>C , CM000664.2:g.232523855T>C | GRCh38 |
NC_000002.11:g.233388565T>C , CM000664.1:g.233388565T>C | GRCh37 |
NC_000002.10:g.233096809T>C | NCBI36 |
NG_008028.1:g.2644T>C | |
NG_031969.1:g.8393T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000617714.2:c.1096T>C MANE Select | ENSP00000479745.1:p.Cys366Arg | |
ENST00000449534.6:c.1099T>C | ENSP00000473410.1:p.Cys367Arg | |
ENST00000617714.1:c.1096T>C | ENSP00000479745.1:p.Cys366Arg | |
NM_001195129.1:c.1096T>C | NP_001182058.1:p.Cys366Arg | |
NM_001195129.2:c.1096T>C MANE Select | NP_001182058.1:p.Cys366Arg | |
NM_001369848.1:c.1099T>C | NP_001356777.1:p.Cys367Arg |