HGVS | Genome Assembly |
---|---|
NC_000001.11:g.35561011G>A , CM000663.2:g.35561011G>A | GRCh38 |
NC_000001.10:g.36026612G>A , CM000663.1:g.36026612G>A | GRCh37 |
NC_000001.9:g.35799199G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373243.7:c.860G>A MANE Select | ENSP00000362340.2:p.Arg287His | |
ENST00000356090.8:c.860G>A | ENSP00000348394.4:p.Arg287His | |
ENST00000373243.6:c.860G>A | ENSP00000362340.2:p.Arg287His | |
ENST00000373253.7:c.809G>A | ENSP00000362350.3:p.Arg270His | |
NM_001014839.1:c.860G>A | NP_001014839.1:p.Arg287His | |
NM_001014841.1:c.809G>A | NP_001014841.1:p.Arg270His | |
NM_014284.2:c.860G>A | NP_055099.1:p.Arg287His | |
NM_014284.3:c.860G>A MANE Select | NP_055099.1:p.Arg287His | |
NM_001014839.2:c.860G>A | NP_001014839.1:p.Arg287His | |
NM_001014841.2:c.809G>A | NP_001014841.1:p.Arg270His |