HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149981882C>A , CM000667.2:g.149981882C>A | GRCh38 |
NC_000005.9:g.149361445C>A , CM000667.1:g.149361445C>A | GRCh37 |
NC_000005.8:g.149341638C>A | NCBI36 |
NG_007147.2:g.23000C>A , LRG_684:g.23000C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286298.5:c.*69C>A MANE Select | ENSP00000286298.4:n.*69C>A | |
ENST00000286298.4:c.*69C>A | ENSP00000286298.4:n.*69C>A | |
ENST00000503336.1:c.372+3531C>A | ENSP00000426053.1:n.372+3531C>A | |
NM_000112.3:c.*69C>A , LRG_684t1:c.*69C>A | NP_000103.2:n.*69C>A | |
XM_017009191.2:c.*13-47C>A | XP_016864680.1:n.*13-47C>A | |
NM_000112.4:c.*69C>A MANE Select | NP_000103.2:n.*69C>A |