Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.72014217G>A , CM000674.2:g.72014217G>A | GRCh38 |
| NC_000012.11:g.72407997G>A , CM000674.1:g.72407997G>A | GRCh37 |
| NC_000012.10:g.70694264G>A | NCBI36 |
| NG_008279.1:g.80372G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173353.4:c.1069-8182G>A MANE Select | NP_775489.2:n.1069-8182G>A |
| ENST00000333850.4:c.1069-8182G>A MANE Select | ENSP00000329093.3:n.1069-8182G>A |
| NM_173353.3:c.1069-8182G>A | NP_775489.2:n.1069-8182G>A |
| ENST00000333850.3:c.1069-8182G>A | ENSP00000329093.3:n.1069-8182G>A |
| XM_011537899.1:c.475-8182G>A | XP_011536201.1:n.475-8182G>A |