HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12810776A>T , CM000686.2:g.12810776A>T | GRCh38 |
NC_000024.9:g.14922711A>T , CM000686.1:g.14922711A>T | GRCh37 |
NC_000024.8:g.13432105A>T | NCBI36 |
NG_008311.1:g.114552A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000651177.1:c.4197A>T | ENSP00000498372.1:p.Glu1399Asp | |
ENST00000338981.7:c.4197A>T MANE Select | ENSP00000342812.3:p.Glu1399Asp | |
ENST00000426564.6:n.4209A>T | ||
NM_004654.3:c.4197A>T | NP_004645.2:p.Glu1399Asp | |
XM_011531469.1:c.4197A>T | XP_011529771.1:p.Glu1399Asp | |
XM_011531470.1:c.3963A>T | XP_011529772.1:p.Glu1321Asp | |
XM_017030078.2:c.4212A>T | XP_016885567.1:p.Glu1404Asp | |
NM_004654.4:c.4197A>T MANE Select | NP_004645.2:p.Glu1399Asp |