HGVS | Genome Assembly |
---|---|
NC_000001.11:g.107058247G>A , CM000663.2:g.107058247G>A | GRCh38 |
NC_000001.10:g.107600869G>A , CM000663.1:g.107600869G>A | GRCh37 |
NC_000001.9:g.107402392G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370078.2:c.*404G>A MANE Select | ENSP00000359095.1:n.*404G>A | |
ENST00000649727.1:n.471+340G>A | ||
ENST00000650338.1:c.1006+340G>A | ENSP00000497826.1:n.1006+340G>A | |
ENST00000370078.1:c.*404G>A | ENSP00000359095.1:n.*404G>A | |
NM_018137.2:c.*404G>A | NP_060607.2:n.*404G>A | |
NM_018137.3:c.*404G>A MANE Select | NP_060607.2:n.*404G>A |