gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.85616224 (NFE)
Genomes Max Group AF
0.85615301 (NFE)
Exomes Max Group AF
0.67258992 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116778201G>C , CM000673.2:g.116778201G>C | GRCh38 |
| NC_000011.9:g.116648917G>C , CM000673.1:g.116648917G>C | GRCh37 |
| NC_000011.8:g.116154127G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227322.8:c.*724C>G MANE Select | ENSP00000227322.3:n.*724C>G | |
| ENST00000227322.7:c.*724C>G | ENSP00000227322.3:n.*724C>G | |
| ENST00000429220.5:c.1883C>G | ||
| ENST00000444935.5:c.2016C>G | ||
| NM_001317086.1:c.*724C>G | NP_001304015.1:n.*724C>G | |
| NM_003904.4:c.*724C>G | NP_003895.1:n.*724C>G | |
| NM_003904.5:c.*724C>G MANE Select | NP_003895.1:n.*724C>G | |
| NM_001317086.2:c.*724C>G | NP_001304015.1:n.*724C>G |