HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12833700A>T , CM000686.2:g.12833700A>T | GRCh38 |
NC_000024.9:g.14945626A>T , CM000686.1:g.14945626A>T | GRCh37 |
NC_000024.8:g.13455020A>T | NCBI36 |
NG_008311.1:g.137467A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000651177.1:c.5034A>T | ENSP00000498372.1:p.Glu1678Asp | |
ENST00000338981.7:c.5034A>T MANE Select | ENSP00000342812.3:p.Glu1678Asp | |
ENST00000426564.6:n.5046A>T | ||
NM_004654.3:c.5034A>T | NP_004645.2:p.Glu1678Asp | |
XM_011531469.1:c.5034A>T | XP_011529771.1:p.Glu1678Asp | |
XM_011531470.1:c.4800A>T | XP_011529772.1:p.Glu1600Asp | |
XM_017030078.2:c.5049A>T | XP_016885567.1:p.Glu1683Asp | |
NM_004654.4:c.5034A>T MANE Select | NP_004645.2:p.Glu1678Asp |