HGVS | Genome Assembly |
---|---|
NC_000012.12:g.49950976G>A , CM000674.2:g.49950976G>A | GRCh38 |
NC_000012.11:g.50344759G>A , CM000674.1:g.50344759G>A | GRCh37 |
NC_000012.10:g.48631026G>A | NCBI36 |
NG_008913.1:g.5236G>A , LRG_717:g.5236G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000199280.4:c.146G>A MANE Select | ENSP00000199280.3:p.Gly49Asp | |
ENST00000199280.3:c.146G>A | ENSP00000199280.3:p.Gly49Asp | |
ENST00000550862.1:c.146G>A | ENSP00000450022.1:p.Gly49Asp | |
ENST00000551526.5:c.146G>A | ENSP00000447148.1:p.Gly49Asp | |
NM_000486.5:c.146G>A , LRG_717t1:c.146G>A | NP_000477.1:p.Gly49Asp | |
NM_000486.6:c.146G>A MANE Select | NP_000477.1:p.Gly49Asp |