HGVS | Genome Assembly |
---|---|
NC_000001.11:g.15445717C>A , CM000663.2:g.15445717C>A | GRCh38 |
NC_000001.10:g.15772212C>A , CM000663.1:g.15772212C>A | GRCh37 |
NC_000001.9:g.15644799C>A | NCBI36 |
NG_009253.1:g.12275C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375949.5:c.760C>A MANE Select | ENSP00000365116.4:p.Arg254= | |
ENST00000375943.6:c.*214C>A | ENSP00000365110.2:n.*214C>A | |
ENST00000375949.4:c.760C>A | ENSP00000365116.4:p.Arg254= | |
ENST00000483406.1:n.524C>A | ||
NM_007272.2:c.760C>A | NP_009203.2:p.Arg254= | |
XM_011540550.1:c.614C>A | XP_011538852.1:p.Pro205Gln | |
NM_007272.3:c.760C>A MANE Select | NP_009203.2:p.Arg254= |