HGVS | Genome Assembly |
---|---|
NC_000004.12:g.119320753A>C , CM000666.2:g.119320753A>C | GRCh38 |
NC_000004.11:g.120241908A>C , CM000666.1:g.120241908A>C | GRCh37 |
NC_000004.10:g.120461356A>C | NCBI36 |
NG_011444.1:g.6409T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000274024.4:c.157T>G MANE Select | ENSP00000274024.3:p.Ser53Ala | |
ENST00000274024.3:c.157T>G | ENSP00000274024.3:p.Ser53Ala | |
NM_000134.3:c.157T>G | NP_000125.2:p.Ser53Ala | |
NM_000134.4:c.157T>G MANE Select | NP_000125.2:p.Ser53Ala |