HGVS | Genome Assembly |
---|---|
NC_000011.10:g.46384943C>T , CM000673.2:g.46384943C>T | GRCh38 |
NC_000011.9:g.46406493C>T , CM000673.1:g.46406493C>T | GRCh37 |
NC_000011.8:g.46363069C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682254.1:c.*175G>A MANE Select | ENSP00000507561.1:n.*175G>A | |
NM_000741.3:c.*175G>A | NP_000732.2:n.*175G>A | |
NM_000741.4:c.*175G>A | NP_000732.2:n.*175G>A | |
NM_001366692.1:c.*175G>A | NP_001353621.1:n.*175G>A | |
NM_000741.5:c.*175G>A MANE Select | NP_000732.2:n.*175G>A | |
NM_001366692.2:c.*175G>A | NP_001353621.1:n.*175G>A |