gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001369 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00001123 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71972406C>G , CM000674.2:g.71972406C>G | GRCh38 |
| NC_000012.11:g.72366186C>G , CM000674.1:g.72366186C>G | GRCh37 |
| NC_000012.10:g.70652453C>G | NCBI36 |
| NG_008279.1:g.38561C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.609-113C>G MANE Select | ENSP00000329093.3:n.609-113C>G | |
| ENST00000333850.3:c.609-113C>G | ENSP00000329093.3:n.609-113C>G | |
| NM_173353.3:c.609-113C>G | NP_775489.2:n.609-113C>G | |
| XM_011537899.1:c.15-113C>G | XP_011536201.1:n.15-113C>G | |
| NM_173353.4:c.609-113C>G MANE Select | NP_775489.2:n.609-113C>G |