HGVS | Genome Assembly |
---|---|
NC_000012.12:g.4912650G>A , CM000674.2:g.4912650G>A | GRCh38 |
NC_000012.11:g.5021816G>A , CM000674.1:g.5021816G>A | GRCh37 |
NC_000012.10:g.4892077G>A | NCBI36 |
NG_011815.1:g.7744G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382545.5:c.1272G>A MANE Select | ENSP00000371985.3:p.Gln424= | |
ENST00000543874.3:n.105+2178G>A | ||
ENST00000639306.1:c.1110G>A | ENSP00000492506.1:p.Gln370= | |
ENST00000639680.1:c.76+384G>A | ||
ENST00000382545.3:c.1272G>A | ENSP00000371985.3:p.Gln424= | |
ENST00000541095.1:n.105+2178G>A | ||
ENST00000543874.2:n.96+2178G>A | ||
NM_000217.2:c.1272G>A | NP_000208.2:p.Gln424= | |
NM_000217.3:c.1272G>A MANE Select | NP_000208.2:p.Gln424= |