HGVS | Genome Assembly |
---|---|
NC_000001.11:g.1014256C>A , CM000663.2:g.1014256C>A | GRCh38 |
NC_000001.10:g.949636C>A , CM000663.1:g.949636C>A | GRCh37 |
NC_000001.9:g.939499C>A | NCBI36 |
NG_033033.1:g.5790C>A | |
NG_033033.2:g.18119C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000624697.4:c.252C>A | ENSP00000485643.1:p.Arg84= | |
ENST00000649529.1:c.276C>A MANE Select | ENSP00000496832.1:p.Arg92= | |
ENST00000379389.4:c.276C>A | ENSP00000368699.4:p.Arg92= | |
ENST00000624652.1:c.252C>A | ENSP00000485313.1:p.Arg84= | |
ENST00000624697.3:c.252C>A | ENSP00000485643.1:p.Arg84= | |
NM_005101.3:c.276C>A | NP_005092.1:p.Arg92= | |
NM_005101.4:c.276C>A MANE Select | NP_005092.1:p.Arg92= |