Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.72020697G= , CM000674.2:g.72020697G= | GRCh38 |
| NC_000012.11:g.72414477G= , CM000674.1:g.72414477G= | GRCh37 |
| NC_000012.10:g.70700744G= | NCBI36 |
| NG_008279.1:g.86852G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.1069-1702G= MANE Select | ENSP00000329093.3:n.1069-1702G= | |
| ENST00000333850.3:c.1069-1702G= | ENSP00000329093.3:n.1069-1702G= | |
| NM_173353.3:c.1069-1702G= | NP_775489.2:n.1069-1702G= | |
| XM_011537899.1:c.475-1702G= | XP_011536201.1:n.475-1702G= | |
| NM_173353.4:c.1069-1702G= MANE Select | NP_775489.2:n.1069-1702G= |