HGVS | Genome Assembly |
---|---|
NC_000023.11:g.119930116C>G , CM000685.2:g.119930116C>G | GRCh38 |
NC_000023.10:g.119064079C>G , CM000685.1:g.119064079C>G | GRCh37 |
NC_000023.9:g.118948107C>G | NCBI36 |
NG_021260.1:g.18657G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371410.5:c.973G>C MANE Select | ENSP00000360464.3:p.Val325Leu | |
ENST00000652253.1:c.969G>C | ||
ENST00000371410.4:c.973G>C | ENSP00000360464.3:p.Val325Leu | |
ENST00000477789.5:n.1901G>C | ||
NM_024528.3:c.973G>C | NP_078804.2:p.Val325Leu | |
XM_017029842.1:c.676G>C | XP_016885331.1:p.Val226Leu | |
NM_024528.4:c.973G>C MANE Select | NP_078804.2:p.Val325Leu |