HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7530319T>A , CM000681.2:g.7530319T>A | GRCh38 |
NC_000019.9:g.7595205T>A , CM000681.1:g.7595205T>A | GRCh37 |
NC_000019.8:g.7501205T>A | NCBI36 |
NG_013374.1:g.1168T>A | |
NG_015806.1:g.12710T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264079.11:c.1393T>A MANE Select | ENSP00000264079.5:p.Phe465Ile | |
ENST00000264079.10:c.1393T>A | ENSP00000264079.5:p.Phe465Ile | |
ENST00000394321.9:n.1708T>A | ||
ENST00000594692.1:n.389T>A | ||
ENST00000595860.5:n.576T>A | ||
ENST00000599334.1:c.237-116T>A | ||
NM_020533.2:c.1393T>A | NP_065394.1:p.Phe465Ile | |
NM_020533.3:c.1393T>A MANE Select | NP_065394.1:p.Phe465Ile |