gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51828264 (NFE)
Genomes Max Group AF
0.51828264 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.150381711C>G , CM000668.2:g.150381711C>G | GRCh38 |
| NC_000006.11:g.150702847C>G , CM000668.1:g.150702847C>G | GRCh37 |
| NC_000006.10:g.150744540C>G | NCBI36 |
| NG_016007.1:g.17820C>G | |
| NG_016007.2:g.17820C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344419.8:c.179-7641C>G MANE Select | ENSP00000343763.4:n.179-7641C>G | |
| ENST00000229447.9:c.179-7641C>G | ENSP00000229447.5:n.179-7641C>G | |
| ENST00000344419.7:c.179-7641C>G | ENSP00000343763.3:n.179-7641C>G | |
| ENST00000367335.7:c.179-7641C>G | ENSP00000356304.3:n.179-7641C>G | |
| ENST00000392255.7:c.179-7641C>G | ENSP00000376084.3:n.179-7641C>G | |
| ENST00000392256.6:c.179-7641C>G | ENSP00000376085.2:n.179-7641C>G | |
| ENST00000422583.2:c.56-7641C>G | ENSP00000397342.2:n.56-7641C>G | |
| ENST00000425615.3:c.14-7641C>G | ENSP00000390081.3:n.14-7641C>G | |
| ENST00000500320.7:c.179-7641C>G | ENSP00000441276.1:n.179-7641C>G | |
| ENST00000546121.1:n.122-7641C>G | ||
| NM_001164694.1:c.179-7641C>G | NP_001158166.1:n.179-7641C>G | |
| NM_001164695.1:c.179-7641C>G | NP_001158167.1:n.179-7641C>G | |
| NM_203395.2:c.179-7641C>G | NP_981932.1:n.179-7641C>G | |
| XM_006715478.2:c.179-7641C>G | XP_006715541.1:n.179-7641C>G | |
| XM_006715479.2:c.14-7641C>G | XP_006715542.1:n.14-7641C>G | |
| XR_245516.3:n.342-7641C>G | ||
| NM_001318495.1:c.1-7641C>G | NP_001305424.1:n.1-7641C>G | |
| NR_134655.1:n.319-7641C>G | ||
| XM_006715478.3:c.179-7641C>G | XP_006715541.1:n.179-7641C>G | |
| XM_006715479.3:c.14-7641C>G | XP_006715542.1:n.14-7641C>G | |
| NM_001164694.2:c.179-7641C>G | NP_001158166.1:n.179-7641C>G | |
| NM_001164695.2:c.179-7641C>G | NP_001158167.1:n.179-7641C>G | |
| NM_001318495.2:c.1-7641C>G | NP_001305424.1:n.1-7641C>G | |
| NM_203395.3:c.179-7641C>G MANE Select | NP_981932.1:n.179-7641C>G | |
| NR_134655.2:n.199-7641C>G |