HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12857653T>G , CM000686.2:g.12857653T>G | GRCh38 |
NC_000024.9:g.14969578T>G , CM000686.1:g.14969578T>G | GRCh37 |
NC_000024.8:g.13478972T>G | NCBI36 |
NG_008311.1:g.161419T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651177.1:c.7522T>G | ENSP00000498372.1:p.Tyr2508Asp | |
ENST00000338981.7:c.7522T>G MANE Select | ENSP00000342812.3:p.Tyr2508Asp | |
ENST00000426564.6:n.7549T>G | ||
ENST00000453031.1:c.567T>G | ||
ENST00000471409.1:n.841T>G | ||
NM_004654.3:c.7522T>G | NP_004645.2:p.Tyr2508Asp | |
XM_011531469.1:c.7522T>G | XP_011529771.1:p.Tyr2508Asp | |
XM_011531470.1:c.7288T>G | XP_011529772.1:p.Tyr2430Asp | |
XM_017030078.2:c.7537T>G | XP_016885567.1:p.Tyr2513Asp | |
NM_004654.4:c.7522T>G MANE Select | NP_004645.2:p.Tyr2508Asp |