HGVS | Genome Assembly |
---|---|
NC_000005.10:g.179129813C>A , CM000667.2:g.179129813C>A | GRCh38 |
NC_000005.9:g.178556814C>A , CM000667.1:g.178556814C>A | GRCh37 |
NC_000005.8:g.178489420C>A | NCBI36 |
NG_023212.2:g.220516G>T | |
NG_023212.3:g.220516G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698889.1:c.2457+119G>T | ENSP00000514008.1:n.2457+119G>T | |
ENST00000251582.12:c.2457+119G>T MANE Select | ENSP00000251582.7:n.2457+119G>T | |
ENST00000518335.3:c.2457+119G>T | ENSP00000489888.2:n.2457+119G>T | |
ENST00000251582.11:c.2457+119G>T | ENSP00000251582.7:n.2457+119G>T | |
NM_014244.4:c.2457+119G>T | NP_055059.2:n.2457+119G>T | |
NM_014244.5:c.2457+119G>T MANE Select | NP_055059.2:n.2457+119G>T |