HGVS | Genome Assembly |
---|---|
NC_000010.11:g.103454042C>T , CM000672.2:g.103454042C>T | GRCh38 |
NC_000010.10:g.105213799C>T , CM000672.1:g.105213799C>T | GRCh37 |
NC_000010.9:g.105203789C>T | NCBI36 |
NG_016855.1:g.9850G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000329905.6:c.*1220G>A MANE Select | ENSP00000329926.6:n.*1220G>A | |
ENST00000329905.5:c.*1220G>A | ENSP00000329926.5:n.*1220G>A | |
NM_001001412.3:c.*1220G>A | NP_001001412.3:n.*1220G>A | |
NM_001001412.4:c.*1220G>A MANE Select | NP_001001412.3:n.*1220G>A |