HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67436769G>T , CM000678.2:g.67436769G>T | GRCh38 |
NC_000016.9:g.67470672G>T , CM000678.1:g.67470672G>T | GRCh37 |
NC_000016.8:g.66028173G>T | NCBI36 |
NG_011482.1:g.49418C>A | |
NG_016549.1:g.10637G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000326152.6:c.984G>T MANE Select | ENSP00000316786.5:p.Ala328= | |
ENST00000326152.5:c.984G>T | ENSP00000316786.5:p.Ala328= | |
NM_000196.3:c.984G>T | NP_000187.3:p.Ala328= | |
NM_000196.4:c.984G>T MANE Select | NP_000187.3:p.Ala328= |