HGVS | Genome Assembly |
---|---|
NC_000023.11:g.46853768C>T , CM000685.2:g.46853768C>T | GRCh38 |
NC_000023.10:g.46713203C>T , CM000685.1:g.46713203C>T | GRCh37 |
NC_000023.9:g.46598147C>T | NCBI36 |
NG_009107.1:g.21857C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000218340.4:c.395C>T MANE Select | ENSP00000218340.3:p.Ala132Val | |
ENST00000218340.3:c.395C>T | ENSP00000218340.3:p.Ala132Val | |
NM_006915.2:c.395C>T | NP_008846.2:p.Ala132Val | |
NM_006915.3:c.395C>T MANE Select | NP_008846.2:p.Ala132Val |