HGVS | Genome Assembly |
---|---|
NC_000023.11:g.119930114T>G , CM000685.2:g.119930114T>G | GRCh38 |
NC_000023.10:g.119064077T>G , CM000685.1:g.119064077T>G | GRCh37 |
NC_000023.9:g.118948105T>G | NCBI36 |
NG_021260.1:g.18659A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371410.5:c.975A>C MANE Select | ENSP00000360464.3:p.Val325= | |
ENST00000652253.1:c.971A>C | ||
ENST00000371410.4:c.975A>C | ENSP00000360464.3:p.Val325= | |
ENST00000477789.5:n.1903A>C | ||
NM_024528.3:c.975A>C | NP_078804.2:p.Val325= | |
XM_017029842.1:c.678A>C | XP_016885331.1:p.Val226= | |
NM_024528.4:c.975A>C MANE Select | NP_078804.2:p.Val325= |