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