HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12810684G>C , CM000686.2:g.12810684G>C | GRCh38 |
NC_000024.9:g.14922619G>C , CM000686.1:g.14922619G>C | GRCh37 |
NC_000024.8:g.13432013G>C | NCBI36 |
NG_008311.1:g.114460G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000651177.1:c.4105G>C | ENSP00000498372.1:p.Glu1369Gln | |
ENST00000338981.7:c.4105G>C MANE Select | ENSP00000342812.3:p.Glu1369Gln | |
ENST00000426564.6:n.4117G>C | ||
NM_004654.3:c.4105G>C | NP_004645.2:p.Glu1369Gln | |
XM_011531469.1:c.4105G>C | XP_011529771.1:p.Glu1369Gln | |
XM_011531470.1:c.3871G>C | XP_011529772.1:p.Glu1291Gln | |
XM_017030078.2:c.4120G>C | XP_016885567.1:p.Glu1374Gln | |
NM_004654.4:c.4105G>C MANE Select | NP_004645.2:p.Glu1369Gln |