Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71991720C= , CM000674.2:g.71991720C= | GRCh38 |
| NC_000012.11:g.72385500C= , CM000674.1:g.72385500C= | GRCh37 |
| NC_000012.10:g.70671767C= | NCBI36 |
| NG_008279.1:g.57875C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173353.4:c.942-2719C= MANE Select | NP_775489.2:n.942-2719C= |
| ENST00000333850.4:c.942-2719C= MANE Select | ENSP00000329093.3:n.942-2719C= |
| NM_173353.3:c.942-2719C= | NP_775489.2:n.942-2719C= |
| ENST00000333850.3:c.942-2719C= | ENSP00000329093.3:n.942-2719C= |
| XM_011537899.1:c.348-2719C= | XP_011536201.1:n.348-2719C= |