Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.8864712T>A , CM000670.2:g.8864712T>A | GRCh38 |
| NC_000008.10:g.8722222T>A , CM000670.1:g.8722222T>A | GRCh37 |
| NC_000008.9:g.8759632T>A | NCBI36 |
| NG_009444.1:g.33910A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276282.7:c.2998+25349A>T MANE Select | ENSP00000276282.6:n.2998+25349A>T | |
| ENST00000276282.6:c.2998+25349A>T | ENSP00000276282.6:n.2998+25349A>T | |
| NM_004225.2:c.2998+25349A>T | NP_004216.2:n.2998+25349A>T | |
| XR_246634.2:n.3534+25349A>T | ||
| XM_024447330.1:c.2998+25349A>T | XP_024303098.1:n.2998+25349A>T | |
| NM_004225.3:c.2998+25349A>T MANE Select | NP_004216.2:n.2998+25349A>T |