gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82180318 (NFE)
Genomes Max Group AF
0.82180318 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71961399A>G , CM000674.2:g.71961399A>G | GRCh38 |
| NC_000012.11:g.72355179A>G , CM000674.1:g.72355179A>G | GRCh37 |
| NC_000012.10:g.70641446A>G | NCBI36 |
| NG_008279.1:g.27554A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.609-11120A>G MANE Select | ENSP00000329093.3:n.609-11120A>G | |
| ENST00000333850.3:c.609-11120A>G | ENSP00000329093.3:n.609-11120A>G | |
| ENST00000546576.1:n.619-154A>G | ||
| NM_173353.3:c.609-11120A>G | NP_775489.2:n.609-11120A>G | |
| XM_011537899.1:c.15-11120A>G | XP_011536201.1:n.15-11120A>G | |
| XR_245894.2:n.709-154A>G | ||
| XR_001748575.1:n.709-154A>G | ||
| NM_173353.4:c.609-11120A>G MANE Select | NP_775489.2:n.609-11120A>G |