HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149981489G>A , CM000667.2:g.149981489G>A | GRCh38 |
NC_000005.9:g.149361052G>A , CM000667.1:g.149361052G>A | GRCh37 |
NC_000005.8:g.149341245G>A | NCBI36 |
NG_007147.2:g.22607G>A , LRG_684:g.22607G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286298.5:c.1896G>A MANE Select | ENSP00000286298.4:p.Gln632= | |
ENST00000286298.4:c.1896G>A | ENSP00000286298.4:p.Gln632= | |
ENST00000503336.1:c.372+3138G>A | ENSP00000426053.1:n.372+3138G>A | |
NM_000112.3:c.1896G>A , LRG_684t1:c.1896G>A | NP_000103.2:p.Gln632= | |
XM_017009191.2:c.1896G>A | XP_016864680.1:p.Gln632= | |
NM_000112.4:c.1896G>A MANE Select | NP_000103.2:p.Gln632= |