gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.74331755 (SAS)
Genomes Max Group AF
0.74331755 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.29901265T>C , CM000677.2:g.29901265T>C | GRCh38 |
| NC_000015.9:g.30193468T>C , CM000677.1:g.30193468T>C | GRCh37 |
| NC_000015.8:g.27980760T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356107.11:c.306+54967A>G | ENSP00000348416.7:n.306+54967A>G | |
| ENST00000473741.1:n.63+54967A>G | ||
| ENST00000558447.1:c.306+54967A>G | ENSP00000453334.1:n.306+54967A>G | |
| NM_001301025.1:c.228+54967A>G | NP_001287954.1:n.228+54967A>G | |
| XM_005254617.2:c.228+54967A>G | XP_005254674.1:n.228+54967A>G | |
| XM_005254619.2:c.228+54967A>G | XP_005254676.1:n.228+54967A>G | |
| XM_005254620.2:c.228+54967A>G | XP_005254677.1:n.228+54967A>G | |
| XM_005254621.2:c.21+54967A>G | XP_005254678.1:n.21+54967A>G | |
| XM_011521972.1:c.228+54967A>G | XP_011520274.1:n.228+54967A>G | |
| XM_011521973.1:c.135+54967A>G | XP_011520275.1:n.135+54967A>G | |
| XM_011521974.1:c.21+54967A>G | XP_011520276.1:n.21+54967A>G | |
| NM_001301025.2:c.306+54967A>G | NP_001287954.2:n.306+54967A>G | |
| NM_001355012.1:c.306+54967A>G | NP_001341941.1:n.306+54967A>G | |
| XM_005254619.3:c.306+54967A>G | XP_005254676.2:n.306+54967A>G | |
| XM_005254620.3:c.306+54967A>G | XP_005254677.2:n.306+54967A>G | |
| XM_011521972.2:c.306+54967A>G | XP_011520274.2:n.306+54967A>G | |
| XM_017022521.1:c.306+54967A>G | XP_016878010.1:n.306+54967A>G | |
| XM_017022522.1:c.306+54967A>G | XP_016878011.1:n.306+54967A>G | |
| XM_017022523.1:c.306+54967A>G | XP_016878012.1:n.306+54967A>G | |
| XM_017022524.1:c.306+54967A>G | XP_016878013.1:n.306+54967A>G | |
| XM_017022531.1:c.-1027+54967A>G | XP_016878020.1:n.-1027+54967A>G | |
| NM_001301025.3:c.306+54967A>G | NP_001287954.2:n.306+54967A>G | |
| NM_001355012.2:c.306+54967A>G | NP_001341941.1:n.306+54967A>G |