HGVS | Genome Assembly |
---|---|
NC_000023.11:g.83508646A>G , CM000685.2:g.83508646A>G | GRCh38 |
NC_000023.10:g.82763654A>G , CM000685.1:g.82763654A>G | GRCh37 |
NC_000023.9:g.82650310A>G | NCBI36 |
NG_009936.2:g.5386A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644024.2:c.322A>G MANE Select | ENSP00000495996.1:p.Thr108Ala | |
ENST00000373200.4:c.322A>G | ENSP00000362296.2:p.Thr108Ala | |
NM_000307.4:c.322A>G | NP_000298.3:p.Thr108Ala | |
NM_000307.5:c.322A>G MANE Select | NP_000298.3:p.Thr108Ala |