gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71958763T>A , CM000674.2:g.71958763T>A | GRCh38 |
| NC_000012.11:g.72352543T>A , CM000674.1:g.72352543T>A | GRCh37 |
| NC_000012.10:g.70638810T>A | NCBI36 |
| NG_008279.1:g.24918T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.608+9108T>A MANE Select | ENSP00000329093.3:n.608+9108T>A | |
| ENST00000333850.3:c.608+9108T>A | ENSP00000329093.3:n.608+9108T>A | |
| ENST00000546576.1:n.619-2790T>A | ||
| NM_173353.3:c.608+9108T>A | NP_775489.2:n.608+9108T>A | |
| XM_011537899.1:c.14+9108T>A | XP_011536201.1:n.14+9108T>A | |
| XR_245894.2:n.709-2790T>A | ||
| XR_001748575.1:n.709-2790T>A | ||
| NM_173353.4:c.608+9108T>A MANE Select | NP_775489.2:n.608+9108T>A |