gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29303458 (NFE)
Genomes Max Group AF
0.29303458 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.30445953G>A , CM000673.2:g.30445953G>A | GRCh38 |
| NC_000011.9:g.30467500G>A , CM000673.1:g.30467500G>A | GRCh37 |
| NC_000011.8:g.30424076G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358117.10:c.537-28320C>T MANE Select | ENSP00000350833.4:n.537-28320C>T | |
| ENST00000358117.9:c.537-28320C>T | ENSP00000350833.4:n.537-28320C>T | |
| ENST00000448418.6:c.537-28320C>T | ENSP00000388258.2:n.537-28320C>T | |
| ENST00000524667.5:n.52+22991C>T | ||
| ENST00000526437.5:c.*281-28320C>T | ENSP00000432469.1:n.*281-28320C>T | |
| NM_001145399.1:c.537-28320C>T | NP_001138871.1:n.537-28320C>T | |
| NM_001584.2:c.537-28320C>T | NP_001575.1:n.537-28320C>T | |
| XM_005253110.2:c.537-28320C>T | XP_005253167.1:n.537-28320C>T | |
| XM_005253111.2:c.537-28320C>T | XP_005253168.1:n.537-28320C>T | |
| XM_005253112.1:c.537-28320C>T | XP_005253169.1:n.537-28320C>T | |
| XM_006718304.2:c.315-28320C>T | XP_006718367.1:n.315-28320C>T | |
| XM_011520345.1:c.315-28320C>T | XP_011518647.1:n.315-28320C>T | |
| XM_011520346.1:c.159-28320C>T | XP_011518648.1:n.159-28320C>T | |
| XM_011520347.1:c.159-28320C>T | XP_011518649.1:n.159-28320C>T | |
| XM_011520348.1:c.159-28320C>T | XP_011518650.1:n.159-28320C>T | |
| XM_005253110.4:c.537-28320C>T | XP_005253167.1:n.537-28320C>T | |
| XM_011520347.3:c.159-28320C>T | XP_011518649.1:n.159-28320C>T | |
| XM_017018231.1:c.510-28320C>T | XP_016873720.1:n.510-28320C>T | |
| XM_017018232.2:c.537-28320C>T | XP_016873721.1:n.537-28320C>T | |
| XM_017018233.2:c.315-28320C>T | XP_016873722.1:n.315-28320C>T | |
| XM_017018234.2:c.315-28320C>T | XP_016873723.1:n.315-28320C>T | |
| XM_017018235.2:c.159-28320C>T | XP_016873724.1:n.159-28320C>T | |
| XM_017018236.2:c.159-28320C>T | XP_016873725.1:n.159-28320C>T | |
| XM_017018237.1:c.159-28320C>T | XP_016873726.1:n.159-28320C>T | |
| XM_024448675.1:c.537-28320C>T | XP_024304443.1:n.537-28320C>T | |
| XM_024448676.1:c.537-28320C>T | XP_024304444.1:n.537-28320C>T | |
| NM_001145399.2:c.537-28320C>T | NP_001138871.1:n.537-28320C>T | |
| NM_001145399.3:c.537-28320C>T | NP_001138871.1:n.537-28320C>T | |
| NM_001377952.1:c.537-28320C>T | NP_001364881.1:n.537-28320C>T | |
| NM_001377953.1:c.537-28320C>T | NP_001364882.1:n.537-28320C>T | |
| NM_001377954.1:c.537-28320C>T | NP_001364883.1:n.537-28320C>T | |
| NM_001377955.1:c.537-28320C>T | NP_001364884.1:n.537-28320C>T | |
| NM_001377956.1:c.537-28320C>T | NP_001364885.1:n.537-28320C>T | |
| NM_001584.3:c.537-28320C>T MANE Select | NP_001575.1:n.537-28320C>T | |
| NR_165336.1:n.788-28320C>T | ||
| NR_165337.1:n.883-28320C>T | ||
| NR_165338.1:n.993-28320C>T | ||
| NR_165339.1:n.886-28320C>T | ||
| NR_165340.1:n.1105-28320C>T | ||
| NR_165341.1:n.744-28320C>T | ||
| NR_165342.1:n.1145-28320C>T | ||
| NR_165344.1:n.840-28320C>T | ||
| NR_165345.1:n.733-28320C>T | ||
| NR_165346.1:n.831-28320C>T | ||
| NR_165347.1:n.684-28320C>T | ||
| NR_165348.1:n.1068-28320C>T |