HGVS | Genome Assembly |
---|---|
NC_000006.12:g.1610833C>G , CM000668.2:g.1610833C>G | GRCh38 |
NC_000006.11:g.1611068C>G , CM000668.1:g.1611068C>G | GRCh37 |
NC_000006.10:g.1556067C>G | NCBI36 |
NG_009368.1:g.5388C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000645831.2:c.388C>G MANE Select | ENSP00000493906.1:p.Leu130Val | |
ENST00000380874.3:c.388C>G | ENSP00000370256.2:p.Leu130Val | |
NM_001453.2:c.388C>G | NP_001444.2:p.Leu130Val | |
NM_001453.3:c.388C>G MANE Select | NP_001444.2:p.Leu130Val |