HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7529701T>G , CM000681.2:g.7529701T>G | GRCh38 |
NC_000019.9:g.7594587T>G , CM000681.1:g.7594587T>G | GRCh37 |
NC_000019.8:g.7500587T>G | NCBI36 |
NG_013374.1:g.550T>G | |
NG_015806.1:g.12092T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264079.11:c.1348T>G MANE Select | ENSP00000264079.5:p.Tyr450Asp | |
ENST00000264079.10:c.1348T>G | ENSP00000264079.5:p.Tyr450Asp | |
ENST00000394321.9:n.1663T>G | ||
ENST00000594692.1:n.344T>G | ||
ENST00000595860.5:n.531T>G | ||
ENST00000599334.1:c.225T>G | ||
NM_020533.2:c.1348T>G | NP_065394.1:p.Tyr450Asp | |
NM_020533.3:c.1348T>G MANE Select | NP_065394.1:p.Tyr450Asp |