HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7530378G>A , CM000681.2:g.7530378G>A | GRCh38 |
NC_000019.9:g.7595264G>A , CM000681.1:g.7595264G>A | GRCh37 |
NC_000019.8:g.7501264G>A | NCBI36 |
NG_013374.1:g.1227G>A | |
NG_015806.1:g.12769G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264079.11:c.1452G>A MANE Select | ENSP00000264079.5:p.Gln484= | |
ENST00000264079.10:c.1452G>A | ENSP00000264079.5:p.Gln484= | |
ENST00000394321.9:n.1767G>A | ||
ENST00000594692.1:n.448G>A | ||
ENST00000595860.5:n.635G>A | ||
ENST00000599334.1:c.237-57G>A | ||
NM_020533.2:c.1452G>A | NP_065394.1:p.Gln484= | |
NM_020533.3:c.1452G>A MANE Select | NP_065394.1:p.Gln484= |