gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48298252 (EAS)
Genomes Max Group AF
0.48298252 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.30543030T>C , CM000673.2:g.30543030T>C | GRCh38 |
| NC_000011.9:g.30564577T>C , CM000673.1:g.30564577T>C | GRCh37 |
| NC_000011.8:g.30521153T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358117.10:c.129-6855A>G MANE Select | ENSP00000350833.4:n.129-6855A>G | |
| ENST00000358117.9:c.129-6855A>G | ENSP00000350833.4:n.129-6855A>G | |
| ENST00000448418.6:c.129-6855A>G | ENSP00000388258.2:n.129-6855A>G | |
| ENST00000526437.5:c.129-6855A>G | ENSP00000432469.1:n.129-6855A>G | |
| ENST00000528686.2:c.129-6855A>G | ENSP00000431805.2:n.129-6855A>G | |
| NM_001145399.1:c.129-6855A>G | NP_001138871.1:n.129-6855A>G | |
| NM_001584.2:c.129-6855A>G | NP_001575.1:n.129-6855A>G | |
| XM_005253110.2:c.129-6855A>G | XP_005253167.1:n.129-6855A>G | |
| XM_005253111.2:c.129-6855A>G | XP_005253168.1:n.129-6855A>G | |
| XM_005253112.1:c.129-6855A>G | XP_005253169.1:n.129-6855A>G | |
| XM_005253114.2:c.129-6855A>G | XP_005253171.1:n.129-6855A>G | |
| XM_006718304.2:c.-94-6855A>G | XP_006718367.1:n.-94-6855A>G | |
| XM_011520345.1:c.-94-6855A>G | XP_011518647.1:n.-94-6855A>G | |
| XM_011520346.1:c.-348-6855A>G | XP_011518648.1:n.-348-6855A>G | |
| XM_011520347.1:c.-167+37216A>G | XP_011518649.1:n.-167+37216A>G | |
| XM_011520348.1:c.-69+37216A>G | XP_011518650.1:n.-69+37216A>G | |
| XM_005253110.4:c.129-6855A>G | XP_005253167.1:n.129-6855A>G | |
| XM_005253114.4:c.129-6855A>G | XP_005253171.1:n.129-6855A>G | |
| XM_011520347.3:c.-167+37216A>G | XP_011518649.1:n.-167+37216A>G | |
| XM_017018231.1:c.-96-1556A>G | XP_016873720.1:n.-96-1556A>G | |
| XM_017018232.2:c.129-6855A>G | XP_016873721.1:n.129-6855A>G | |
| XM_017018233.2:c.-94-6855A>G | XP_016873722.1:n.-94-6855A>G | |
| XM_017018234.2:c.-94-6855A>G | XP_016873723.1:n.-94-6855A>G | |
| XM_017018235.2:c.-348-6855A>G | XP_016873724.1:n.-348-6855A>G | |
| XM_017018236.2:c.-69+37216A>G | XP_016873725.1:n.-69+37216A>G | |
| XM_017018237.1:c.-69+37216A>G | XP_016873726.1:n.-69+37216A>G | |
| XM_024448675.1:c.129-6855A>G | XP_024304443.1:n.129-6855A>G | |
| XM_024448676.1:c.129-6855A>G | XP_024304444.1:n.129-6855A>G | |
| NM_001145399.2:c.129-6855A>G | NP_001138871.1:n.129-6855A>G | |
| NM_001145399.3:c.129-6855A>G | NP_001138871.1:n.129-6855A>G | |
| NM_001377952.1:c.129-6855A>G | NP_001364881.1:n.129-6855A>G | |
| NM_001377953.1:c.129-6855A>G | NP_001364882.1:n.129-6855A>G | |
| NM_001377954.1:c.129-6855A>G | NP_001364883.1:n.129-6855A>G | |
| NM_001377955.1:c.129-6855A>G | NP_001364884.1:n.129-6855A>G | |
| NM_001377956.1:c.129-6855A>G | NP_001364885.1:n.129-6855A>G | |
| NM_001584.3:c.129-6855A>G MANE Select | NP_001575.1:n.129-6855A>G | |
| NR_165336.1:n.561+37216A>G | ||
| NR_165337.1:n.656+27128A>G | ||
| NR_165338.1:n.585-6855A>G | ||
| NR_165339.1:n.561+37216A>G | ||
| NR_165340.1:n.697-6855A>G | ||
| NR_165341.1:n.562-6855A>G | ||
| NR_165342.1:n.737-6855A>G | ||
| NR_165343.1:n.614-6855A>G | ||
| NR_165344.1:n.613+37216A>G | ||
| NR_165345.1:n.506+37216A>G | ||
| NR_165346.1:n.325-6855A>G | ||
| NR_165347.1:n.457+13506A>G | ||
| NR_165348.1:n.562-6855A>G |