HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18786048T>G , CM000681.2:g.18786048T>G | GRCh38 |
NC_000019.9:g.18896858T>G , CM000681.1:g.18896858T>G | GRCh37 |
NC_000019.8:g.18757858T>G | NCBI36 |
NG_007070.1:g.10257A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.1406A>C MANE Select | ENSP00000222271.2:p.Asp469Ala | |
ENST00000222271.6:c.1406A>C | ENSP00000222271.2:p.Asp469Ala | |
ENST00000425807.1:c.1247A>C | ENSP00000403792.1:p.Asp416Ala | |
ENST00000542601.6:c.1307A>C | ENSP00000439156.2:p.Asp436Ala | |
NM_000095.2:c.1406A>C | NP_000086.2:p.Asp469Ala | |
NM_000095.3:c.1406A>C MANE Select | NP_000086.2:p.Asp469Ala |