HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67932060C>G , CM000666.2:g.67932060C>G | GRCh38 |
NC_000004.11:g.68797778C>G , CM000666.1:g.68797778C>G | GRCh37 |
NC_000004.10:g.68480373C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000508048.6:c.253G>C MANE Select | ENSP00000426911.2:p.Val85Leu | |
ENST00000334830.11:c.262G>C | ENSP00000334611.7:p.Val88Leu | |
ENST00000396188.3:c.253G>C | ENSP00000379491.3:p.Val85Leu | |
ENST00000508048.5:c.253G>C | ENSP00000426911.2:p.Val85Leu | |
ENST00000513536.5:c.193G>C | ENSP00000427621.1:p.Val65Leu | |
NM_001114387.1:c.253G>C | NP_001107859.1:p.Val85Leu | |
NM_182606.3:c.262G>C | NP_872412.3:p.Val88Leu | |
NM_001114387.2:c.253G>C MANE Select | NP_001107859.1:p.Val85Leu | |
NM_182606.4:c.262G>C | NP_872412.3:p.Val88Leu |