HGVS | Genome Assembly |
---|---|
NC_000010.11:g.103458368G>T , CM000672.2:g.103458368G>T | GRCh38 |
NC_000010.10:g.105218125G>T , CM000672.1:g.105218125G>T | GRCh37 |
NC_000010.9:g.105208115G>T | NCBI36 |
NG_016855.1:g.5524C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329905.6:c.384C>A MANE Select | ENSP00000329926.6:p.Ala128= | |
ENST00000329905.5:c.384C>A | ENSP00000329926.5:p.Ala128= | |
NM_001001412.3:c.384C>A | NP_001001412.3:p.Ala128= | |
NM_001001412.4:c.384C>A MANE Select | NP_001001412.3:p.Ala128= |