HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232523842C= , CM000664.2:g.232523842C= | GRCh38 |
NC_000002.11:g.233388552C= , CM000664.1:g.233388552C= | GRCh37 |
NC_000002.10:g.233096796C= | NCBI36 |
NG_008028.1:g.2631C= | |
NG_031969.1:g.8380C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000617714.2:c.1083C= MANE Select | ENSP00000479745.1:p.Asp361= | |
ENST00000449534.6:c.1086C= | ENSP00000473410.1:p.Asp362= | |
ENST00000617714.1:c.1083C= | ENSP00000479745.1:p.Asp361= | |
NM_001195129.1:c.1083C= | NP_001182058.1:p.Asp361= | |
NM_001195129.2:c.1083C= MANE Select | NP_001182058.1:p.Asp361= | |
NM_001369848.1:c.1086C= | NP_001356777.1:p.Asp362= |