HGVS | Genome Assembly |
---|---|
NC_000005.10:g.179129930A>C , CM000667.2:g.179129930A>C | GRCh38 |
NC_000005.9:g.178556931A>C , CM000667.1:g.178556931A>C | GRCh37 |
NC_000005.8:g.178489537A>C | NCBI36 |
NG_023212.2:g.220399T>G | |
NG_023212.3:g.220399T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698889.1:c.2457+2T>G | ENSP00000514008.1:n.2457+2T>G | |
ENST00000251582.12:c.2457+2T>G MANE Select | ENSP00000251582.7:n.2457+2T>G | |
ENST00000518335.3:c.2457+2T>G | ENSP00000489888.2:n.2457+2T>G | |
ENST00000251582.11:c.2457+2T>G | ENSP00000251582.7:n.2457+2T>G | |
NM_014244.4:c.2457+2T>G | NP_055059.2:n.2457+2T>G | |
NM_014244.5:c.2457+2T>G MANE Select | NP_055059.2:n.2457+2T>G |