HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12857619T>A , CM000686.2:g.12857619T>A | GRCh38 |
NC_000024.9:g.14969544T>A , CM000686.1:g.14969544T>A | GRCh37 |
NC_000024.8:g.13478938T>A | NCBI36 |
NG_008311.1:g.161385T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651177.1:c.7488T>A | ENSP00000498372.1:p.Asp2496Glu | |
ENST00000338981.7:c.7488T>A MANE Select | ENSP00000342812.3:p.Asp2496Glu | |
ENST00000426564.6:n.7515T>A | ||
ENST00000453031.1:c.533T>A | ||
ENST00000471409.1:n.807T>A | ||
NM_004654.3:c.7488T>A | NP_004645.2:p.Asp2496Glu | |
XM_011531469.1:c.7488T>A | XP_011529771.1:p.Asp2496Glu | |
XM_011531470.1:c.7254T>A | XP_011529772.1:p.Asp2418Glu | |
XM_017030078.2:c.7503T>A | XP_016885567.1:p.Asp2501Glu | |
NM_004654.4:c.7488T>A MANE Select | NP_004645.2:p.Asp2496Glu |