HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18786001G= , CM000681.2:g.18786001G= | GRCh38 |
NC_000019.9:g.18896811G= , CM000681.1:g.18896811G= | GRCh37 |
NC_000019.8:g.18757811G= | NCBI36 |
NG_007070.1:g.10304C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.1453C= MANE Select | ENSP00000222271.2:p.Arg485= | |
ENST00000222271.6:c.1453C= | ENSP00000222271.2:p.Arg485= | |
ENST00000425807.1:c.1294C= | ENSP00000403792.1:p.Arg432= | |
ENST00000542601.6:c.1354C= | ENSP00000439156.2:p.Arg452= | |
NM_000095.2:c.1453C= | NP_000086.2:p.Arg485= | |
NM_000095.3:c.1453C= MANE Select | NP_000086.2:p.Arg485= |