HGVS | Genome Assembly |
---|---|
NC_000012.12:g.49950956A>G , CM000674.2:g.49950956A>G | GRCh38 |
NC_000012.11:g.50344739A>G , CM000674.1:g.50344739A>G | GRCh37 |
NC_000012.10:g.48631006A>G | NCBI36 |
NG_008913.1:g.5216A>G , LRG_717:g.5216A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000199280.4:c.126A>G MANE Select | ENSP00000199280.3:p.Leu42= | |
ENST00000199280.3:c.126A>G | ENSP00000199280.3:p.Leu42= | |
ENST00000550862.1:c.126A>G | ENSP00000450022.1:p.Leu42= | |
ENST00000551526.5:c.126A>G | ENSP00000447148.1:p.Leu42= | |
NM_000486.5:c.126A>G , LRG_717t1:c.126A>G | NP_000477.1:p.Leu42= | |
NM_000486.6:c.126A>G MANE Select | NP_000477.1:p.Leu42= |