HGVS | Genome Assembly |
---|---|
NC_000001.11:g.1014027A>G , CM000663.2:g.1014027A>G | GRCh38 |
NC_000001.10:g.949407A>G , CM000663.1:g.949407A>G | GRCh37 |
NC_000001.9:g.939270A>G | NCBI36 |
NG_033033.1:g.5561A>G | |
NG_033033.2:g.17890A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000624697.4:c.23A>G | ENSP00000485643.1:p.Gln8Arg | |
ENST00000649529.1:c.47A>G MANE Select | ENSP00000496832.1:p.Gln16Arg | |
ENST00000379389.4:c.47A>G | ENSP00000368699.4:p.Gln16Arg | |
ENST00000624652.1:c.23A>G | ENSP00000485313.1:p.Gln8Arg | |
ENST00000624697.3:c.23A>G | ENSP00000485643.1:p.Gln8Arg | |
NM_005101.3:c.47A>G | NP_005092.1:p.Gln16Arg | |
NM_005101.4:c.47A>G MANE Select | NP_005092.1:p.Gln16Arg |