gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50858719 (NFE)
Genomes Max Group AF
0.50858719 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.4527752C>G , CM000671.2:g.4527752C>G | GRCh38 |
| NC_000009.11:g.4527752C>G , CM000671.1:g.4527752C>G | GRCh37 |
| NC_000009.10:g.4517752C>G | NCBI36 |
| NG_017044.1:g.42326C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262352.8:c.92-16815C>G MANE Select | ENSP00000262352.3:n.92-16815C>G | |
| ENST00000262352.7:c.92-16815C>G | ENSP00000262352.3:n.92-16815C>G | |
| NM_004170.5:c.92-16815C>G | NP_004161.4:n.92-16815C>G | |
| XM_011518007.1:c.160+7856C>G | XP_011516309.1:n.160+7856C>G | |
| XM_011518008.1:c.100+7856C>G | XP_011516310.1:n.100+7856C>G | |
| XM_011518009.1:c.31+10114C>G | XP_011516311.1:n.31+10114C>G | |
| XM_011518010.1:c.92-33697C>G | XP_011516312.1:n.92-33697C>G | |
| XM_011518008.3:c.100+7856C>G | XP_011516310.1:n.100+7856C>G | |
| XM_011518009.3:c.31+10114C>G | XP_011516311.1:n.31+10114C>G | |
| XM_017015042.1:c.160+7856C>G | XP_016870531.1:n.160+7856C>G | |
| XM_017015043.1:c.92-16815C>G | XP_016870532.1:n.92-16815C>G | |
| NM_004170.6:c.92-16815C>G MANE Select | NP_004161.4:n.92-16815C>G |