gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010803 (NFE)
Genomes Max Group AF
0.00004766 (NFE)
Exomes Max Group AF
0.00010845 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.56639367C>G , CM000668.2:g.56639367C>G | GRCh38 |
| NC_000006.11:g.56504165C>G , CM000668.1:g.56504165C>G | GRCh37 |
| NC_000006.10:g.56612124C>G | NCBI36 |
| NG_029322.1:g.8530G>C | |
| NG_029322.2:g.320262G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421834.7:c.2227-4G>C | ENSP00000400883.3:n.2227-4G>C | |
| ENST00000449297.7:c.2761-4G>C | ENSP00000393082.3:n.2761-4G>C | |
| ENST00000520645.6:c.2347-4G>C | ENSP00000431030.2:n.2347-4G>C | |
| ENST00000370765.11:c.1249-4G>C MANE Plus Clinical | ENSP00000359801.6:n.1249-4G>C | |
| ENST00000652573.1:c.2575-4G>C | ENSP00000498983.1:n.2575-4G>C | |
| ENST00000680361.1:c.2860-4G>C MANE Select | ENSP00000505098.1:n.2860-4G>C | |
| ENST00000244364.10:c.1249-4G>C | ENSP00000244364.6:n.1249-4G>C | |
| ENST00000312431.10:c.2347-4G>C | ENSP00000307959.7:n.2347-4G>C | |
| ENST00000361203.7:c.2227-4G>C | ENSP00000354508.3:n.2227-4G>C | |
| ENST00000370754.9:c.2761-4G>C | ENSP00000359790.6:n.2761-4G>C | |
| ENST00000370765.10:c.1249-4G>C | ENSP00000359801.6:n.1249-4G>C | |
| ENST00000370788.6:c.2227-4G>C | ENSP00000359824.2:n.2227-4G>C | |
| ENST00000421834.6:c.2227-4G>C | ENSP00000400883.3:n.2227-4G>C | |
| ENST00000439203.5:c.1249-4G>C | ENSP00000404924.1:n.1249-4G>C | |
| ENST00000518935.5:c.1249-4G>C | ENSP00000431003.1:n.1249-4G>C | |
| ENST00000520645.5:c.2347-4G>C | ENSP00000431030.1:n.2347-4G>C | |
| ENST00000521104.1:n.2729-4G>C | ||
| ENST00000523967.5:n.2457-4G>C | ||
| NM_001144769.2:c.2761-4G>C | NP_001138241.1:n.2761-4G>C | |
| NM_001144770.1:c.2347-4G>C | NP_001138242.1:n.2347-4G>C | |
| NM_001723.5:c.1249-4G>C | NP_001714.1:n.1249-4G>C | |
| NM_015548.4:c.1249-4G>C | NP_056363.2:n.1249-4G>C | |
| NM_183380.3:c.2227-4G>C | NP_899236.1:n.2227-4G>C | |
| XM_005249310.2:c.2860-4G>C | XP_005249367.1:n.2860-4G>C | |
| XM_005249315.2:c.2761-4G>C | XP_005249372.1:n.2761-4G>C | |
| XM_005249316.1:c.2575-4G>C | XP_005249373.1:n.2575-4G>C | |
| XM_005249318.1:c.2446-4G>C | XP_005249375.1:n.2446-4G>C | |
| XM_005249319.1:c.2347-4G>C | XP_005249376.1:n.2347-4G>C | |
| XM_005249320.3:c.2326-4G>C | XP_005249377.1:n.2326-4G>C | |
| XM_005249322.3:c.2305-4G>C | XP_005249379.1:n.2305-4G>C | |
| XM_005249323.2:c.2227-4G>C | XP_005249380.1:n.2227-4G>C | |
| XM_005249324.1:c.1249-4G>C | XP_005249381.1:n.1249-4G>C | |
| XM_011514824.1:c.2788-4G>C | XP_011513126.1:n.2788-4G>C | |
| XM_011514825.1:c.2788-4G>C | XP_011513127.1:n.2788-4G>C | |
| XM_011514826.1:c.2227-4G>C | XP_011513128.1:n.2227-4G>C | |
| XM_005249310.4:c.2860-4G>C | XP_005249367.1:n.2860-4G>C | |
| XM_005249315.3:c.2761-4G>C | XP_005249372.1:n.2761-4G>C | |
| XM_005249316.3:c.2575-4G>C | XP_005249373.1:n.2575-4G>C | |
| XM_005249318.2:c.2446-4G>C | XP_005249375.1:n.2446-4G>C | |
| XM_005249319.2:c.2347-4G>C | XP_005249376.1:n.2347-4G>C | |
| XM_005249320.4:c.2326-4G>C | XP_005249377.1:n.2326-4G>C | |
| XM_005249322.5:c.2305-4G>C | XP_005249379.1:n.2305-4G>C | |
| XM_005249323.4:c.2227-4G>C | XP_005249380.1:n.2227-4G>C | |
| XM_005249324.3:c.1249-4G>C | XP_005249381.1:n.1249-4G>C | |
| XM_011514824.2:c.2788-4G>C | XP_011513126.1:n.2788-4G>C | |
| XM_011514825.3:c.2788-4G>C | XP_011513127.1:n.2788-4G>C | |
| XM_011514826.3:c.2227-4G>C | XP_011513128.1:n.2227-4G>C | |
| XM_017011205.1:c.2887-4G>C | XP_016866694.1:n.2887-4G>C | |
| XM_017011206.1:c.2887-4G>C | XP_016866695.1:n.2887-4G>C | |
| XM_017011207.1:c.2824-4G>C | XP_016866696.1:n.2824-4G>C | |
| XM_017011208.1:c.2887-4G>C | XP_016866697.1:n.2887-4G>C | |
| XM_017011209.1:c.2887-4G>C | XP_016866698.1:n.2887-4G>C | |
| XM_017011210.1:c.2887-4G>C | XP_016866699.1:n.2887-4G>C | |
| XM_017011211.2:c.2887-4G>C | XP_016866700.1:n.2887-4G>C | |
| XM_017011212.1:c.2887-4G>C | XP_016866701.1:n.2887-4G>C | |
| XM_017011213.1:c.2887-4G>C | XP_016866702.1:n.2887-4G>C | |
| XM_017011214.2:c.2887-4G>C | XP_016866703.1:n.2887-4G>C | |
| XM_017011215.2:c.2887-4G>C | XP_016866704.1:n.2887-4G>C | |
| XM_017011216.2:c.2887-4G>C | XP_016866705.1:n.2887-4G>C | |
| XM_017011217.1:c.2263-4G>C | XP_016866706.1:n.2263-4G>C | |
| XM_017011219.1:c.2887-4G>C | XP_016866708.1:n.2887-4G>C | |
| XM_017011220.1:c.2761-4G>C | XP_016866709.1:n.2761-4G>C | |
| XM_017011221.1:c.2887-4G>C | XP_016866710.1:n.2887-4G>C | |
| XM_017011222.2:c.2575-4G>C | XP_016866711.1:n.2575-4G>C | |
| XM_017011223.1:c.2887-4G>C | XP_016866712.1:n.2887-4G>C | |
| XM_017011224.2:c.2227-4G>C | XP_016866713.1:n.2227-4G>C | |
| XM_017011225.2:c.2887-4G>C | XP_016866714.1:n.2887-4G>C | |
| XM_024446530.1:c.2206-4G>C | XP_024302298.1:n.2206-4G>C | |
| NM_001144769.5:c.2761-4G>C | NP_001138241.1:n.2761-4G>C | |
| NM_001144770.2:c.2347-4G>C | NP_001138242.1:n.2347-4G>C | |
| NM_001374722.1:c.2860-4G>C | NP_001361651.1:n.2860-4G>C | |
| NM_001374729.1:c.2227-4G>C | NP_001361658.1:n.2227-4G>C | |
| NM_001374730.1:c.2227-4G>C | NP_001361659.1:n.2227-4G>C | |
| NM_001374734.1:c.2887-4G>C | NP_001361663.1:n.2887-4G>C | |
| NM_001374736.1:c.2860-4G>C MANE Select | NP_001361665.1:n.2860-4G>C | |
| NM_001723.6:c.1249-4G>C | NP_001714.1:n.1249-4G>C | |
| NM_015548.5:c.1249-4G>C | NP_056363.2:n.1249-4G>C | |
| NM_183380.4:c.2227-4G>C | NP_899236.1:n.2227-4G>C | |
| NM_001386100.1:c.2227-4G>C | NP_001373029.1:n.2227-4G>C | |
| NM_001723.7:c.1249-4G>C MANE Plus Clinical | NP_001714.1:n.1249-4G>C |