Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28355524G= , CM000675.2:g.28355524G= | GRCh38 |
| NC_000013.10:g.28929661G= , CM000675.1:g.28929661G= | GRCh37 |
| NC_000013.9:g.27827661G= | NCBI36 |
| NG_012003.1:g.144605C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282397.9:c.2248+2030C= MANE Select | ENSP00000282397.4:n.2248+2030C= | |
| ENST00000282397.8:c.2248+2030C= | ENSP00000282397.4:n.2248+2030C= | |
| NM_002019.4:c.2248+2030C= MANE Select | NP_002010.2:n.2248+2030C= | |
| XM_017020485.1:c.2248+2030C= | XP_016875974.1:n.2248+2030C= |