HGVS | Genome Assembly |
---|---|
NC_000023.11:g.37805093C>G , CM000685.2:g.37805093C>G | GRCh38 |
NC_000023.10:g.37664346C>G , CM000685.1:g.37664346C>G | GRCh37 |
NC_000023.9:g.37549290C>G | NCBI36 |
NG_009065.1:g.30077C>G , LRG_53:g.30077C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696170.1:c.*748C>G | ENSP00000512461.1:n.*748C>G | |
ENST00000696171.1:c.1143C>G | ENSP00000512462.1:p.Val381= | |
ENST00000378588.5:c.1239C>G MANE Select | ENSP00000367851.4:p.Val413= | |
ENST00000378588.4:c.1239C>G | ENSP00000367851.4:p.Val413= | |
ENST00000465127.1:c.171+379093C>G | ENSP00000417050.1:n.171+379093C>G | |
NM_000397.3:c.1239C>G , LRG_53t1:c.1239C>G | NP_000388.2:p.Val413= | |
XM_011543890.1:c.933C>G | XP_011542192.1:p.Val311= | |
NM_000397.4:c.1239C>G MANE Select | NP_000388.2:p.Val413= |