HGVS | Genome Assembly |
---|---|
NC_000004.12:g.78526601G>A , CM000666.2:g.78526601G>A | GRCh38 |
NC_000004.11:g.79447755G>A , CM000666.1:g.79447755G>A | GRCh37 |
NC_000004.10:g.79666779G>A | NCBI36 |
NG_015812.1:g.474032G>A | |
NG_015812.2:g.474032G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000512123.4:c.10869G>A MANE Select | ENSP00000422834.2:p.Gln3623= | |
ENST00000512123.3:c.10869G>A | ENSP00000422834.2:p.Gln3623= | |
NM_025074.6:c.10869G>A | NP_079350.5:p.Gln3623= | |
XM_006714314.1:c.10863G>A | XP_006714377.1:p.Gln3621= | |
XM_006714316.1:c.10641G>A | XP_006714379.1:p.Gln3547= | |
XM_011532270.1:c.8568G>A | XP_011530572.1:p.Gln2856= | |
XM_011532271.1:c.5757G>A | XP_011530573.1:p.Gln1919= | |
XM_006714316.3:c.10641G>A | XP_006714379.1:p.Gln3547= | |
NM_025074.7:c.10869G>A MANE Select | NP_079350.5:p.Gln3623= |