HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12778054G>A , CM000686.2:g.12778054G>A | GRCh38 |
NC_000024.9:g.14889988G>A , CM000686.1:g.14889988G>A | GRCh37 |
NC_000024.8:g.13399382G>A | NCBI36 |
NG_008311.1:g.81829G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651177.1:c.2675G>A | ENSP00000498372.1:p.Arg892Gln | |
ENST00000338981.7:c.2675G>A MANE Select | ENSP00000342812.3:p.Arg892Gln | |
ENST00000426564.6:n.2687G>A | ||
NM_004654.3:c.2675G>A | NP_004645.2:p.Arg892Gln | |
XM_011531469.1:c.2675G>A | XP_011529771.1:p.Arg892Gln | |
XM_011531470.1:c.2441G>A | XP_011529772.1:p.Arg814Gln | |
XM_017030078.2:c.2690G>A | XP_016885567.1:p.Arg897Gln | |
NM_004654.4:c.2675G>A MANE Select | NP_004645.2:p.Arg892Gln |