Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71956246T>A , CM000674.2:g.71956246T>A | GRCh38 |
| NC_000012.11:g.72350026T>A , CM000674.1:g.72350026T>A | GRCh37 |
| NC_000012.10:g.70636293T>A | NCBI36 |
| NG_008279.1:g.22401T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173353.4:c.608+6591T>A MANE Select | NP_775489.2:n.608+6591T>A |
| ENST00000333850.4:c.608+6591T>A MANE Select | ENSP00000329093.3:n.608+6591T>A |
| NM_173353.3:c.608+6591T>A | NP_775489.2:n.608+6591T>A |
| ENST00000333850.3:c.608+6591T>A | ENSP00000329093.3:n.608+6591T>A |
| ENST00000546576.1:n.619-5307T>A | |
| XM_011537899.1:c.14+6591T>A | XP_011536201.1:n.14+6591T>A |
| XR_001748575.1:n.709-5307T>A | |
| XR_245894.2:n.709-5307T>A |