HGVS | Genome Assembly |
---|---|
NC_000007.14:g.29881908G>A , CM000669.2:g.29881908G>A | GRCh38 |
NC_000007.13:g.29921524G>A , CM000669.1:g.29921524G>A | GRCh37 |
NC_000007.12:g.29888049G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242140.10:c.356-1942G>A MANE Select | ENSP00000242140.6:n.356-1942G>A | |
ENST00000242140.9:c.356-1942G>A | ENSP00000242140.6:n.356-1942G>A | |
ENST00000409123.5:c.356-1942G>A | ENSP00000386790.1:n.356-1942G>A | |
ENST00000409290.1:c.356-1942G>A | ENSP00000386878.1:n.356-1942G>A | |
NM_001080529.2:c.356-1942G>A | NP_001073998.2:n.356-1942G>A | |
XM_011515475.1:c.848-1942G>A | XP_011513777.1:n.848-1942G>A | |
XM_017012522.1:c.323-1942G>A | XP_016868011.1:n.323-1942G>A | |
NM_001080529.3:c.356-1942G>A MANE Select | NP_001073998.2:n.356-1942G>A | |
NM_001391973.1:c.356-1942G>A | NP_001378902.1:n.356-1942G>A |