Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.8864916G= , CM000670.2:g.8864916G= | GRCh38 |
| NC_000008.10:g.8722426G= , CM000670.1:g.8722426G= | GRCh37 |
| NC_000008.9:g.8759836G= | NCBI36 |
| NG_009444.1:g.33706C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276282.7:c.2998+25145C= MANE Select | ENSP00000276282.6:n.2998+25145C= | |
| ENST00000276282.6:c.2998+25145C= | ENSP00000276282.6:n.2998+25145C= | |
| NM_004225.2:c.2998+25145C= | NP_004216.2:n.2998+25145C= | |
| XR_246634.2:n.3534+25145C= | ||
| XM_024447330.1:c.2998+25145C= | XP_024303098.1:n.2998+25145C= | |
| NM_004225.3:c.2998+25145C= MANE Select | NP_004216.2:n.2998+25145C= |