HGVS | Genome Assembly |
---|---|
NC_000004.12:g.71030625A>G , CM000666.2:g.71030625A>G | GRCh38 |
NC_000004.11:g.71896342A>G , CM000666.1:g.71896342A>G | GRCh37 |
NC_000004.10:g.72115206A>G | NCBI36 |
NG_023303.1:g.42078A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286648.10:c.*1247A>G MANE Select | ENSP00000286648.5:n.*1247A>G | |
ENST00000286648.9:c.*1247A>G | ENSP00000286648.5:n.*1247A>G | |
ENST00000503359.5:c.*1974A>G | ENSP00000426389.1:n.*1974A>G | |
ENST00000504730.5:c.*1314A>G | ENSP00000425578.1:n.*1314A>G | |
ENST00000504952.1:c.*1173A>G | ENSP00000421508.1:n.*1173A>G | |
NM_000788.2:c.*1247A>G | NP_000779.1:n.*1247A>G | |
NM_000788.3:c.*1247A>G MANE Select | NP_000779.1:n.*1247A>G |