Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.8864717G= , CM000670.2:g.8864717G= | GRCh38 |
| NC_000008.10:g.8722227G= , CM000670.1:g.8722227G= | GRCh37 |
| NC_000008.9:g.8759637G= | NCBI36 |
| NG_009444.1:g.33905C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276282.7:c.2998+25344C= MANE Select | ENSP00000276282.6:n.2998+25344C= | |
| ENST00000276282.6:c.2998+25344C= | ENSP00000276282.6:n.2998+25344C= | |
| NM_004225.2:c.2998+25344C= | NP_004216.2:n.2998+25344C= | |
| XR_246634.2:n.3534+25344C= | ||
| XM_024447330.1:c.2998+25344C= | XP_024303098.1:n.2998+25344C= | |
| NM_004225.3:c.2998+25344C= MANE Select | NP_004216.2:n.2998+25344C= |