HGVS | Genome Assembly |
---|---|
NC_000005.10:g.179129936A>G , CM000667.2:g.179129936A>G | GRCh38 |
NC_000005.9:g.178556937A>G , CM000667.1:g.178556937A>G | GRCh37 |
NC_000005.8:g.178489543A>G | NCBI36 |
NG_023212.2:g.220393T>C | |
NG_023212.3:g.220393T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698889.1:c.2453T>C | ENSP00000514008.1:p.Val818Ala | |
ENST00000251582.12:c.2453T>C MANE Select | ENSP00000251582.7:p.Val818Ala | |
ENST00000518335.3:c.2453T>C | ENSP00000489888.2:p.Val818Ala | |
ENST00000251582.11:c.2453T>C | ENSP00000251582.7:p.Val818Ala | |
NM_014244.4:c.2453T>C | NP_055059.2:p.Val818Ala | |
NM_014244.5:c.2453T>C MANE Select | NP_055059.2:p.Val818Ala |