Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.8859497T= , CM000670.2:g.8859497T= | GRCh38 |
| NC_000008.10:g.8717007T= , CM000670.1:g.8717007T= | GRCh37 |
| NC_000008.9:g.8754417T= | NCBI36 |
| NG_009444.1:g.39125A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276282.7:c.2998+30564A= MANE Select | ENSP00000276282.6:n.2998+30564A= | |
| ENST00000276282.6:c.2998+30564A= | ENSP00000276282.6:n.2998+30564A= | |
| ENST00000521881.5:n.42+493A= | ||
| NM_004225.2:c.2998+30564A= | NP_004216.2:n.2998+30564A= | |
| XR_246634.2:n.3534+30564A= | ||
| XM_024447330.1:c.2998+30564A= | XP_024303098.1:n.2998+30564A= | |
| NM_004225.3:c.2998+30564A= MANE Select | NP_004216.2:n.2998+30564A= |