gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.87545381 (SAS)
Genomes Max Group AF
0.87545381 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214052678A>C , CM000664.2:g.214052678A>C | GRCh38 |
| NC_000002.11:g.214917402A>C , CM000664.1:g.214917402A>C | GRCh37 |
| NC_000002.10:g.214625647A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331683.10:c.1527+38601A>C MANE Select | ENSP00000332592.5:n.1527+38601A>C | |
| ENST00000331683.9:c.1527+38601A>C | ENSP00000332592.5:n.1527+38601A>C | |
| ENST00000406979.6:c.*1528+38601A>C | ENSP00000385496.2:n.*1528+38601A>C | |
| ENST00000451561.1:c.399+38601A>C | ENSP00000416600.1:n.399+38601A>C | |
| ENST00000452556.5:c.*1093+38601A>C | ENSP00000398926.1:n.*1093+38601A>C | |
| ENST00000480494.1:n.269+38601A>C | ||
| NM_024532.4:c.1527+38601A>C | NP_078808.3:n.1527+38601A>C | |
| NR_047659.1:n.1807+38601A>C | ||
| NR_047660.1:n.1513+38601A>C | ||
| XM_011511814.1:c.1434+38601A>C | XP_011510116.1:n.1434+38601A>C | |
| XM_011511815.1:c.1527+38601A>C | XP_011510117.1:n.1527+38601A>C | |
| XM_011511816.1:c.1527+38601A>C | XP_011510118.1:n.1527+38601A>C | |
| XM_011511817.1:c.1527+38601A>C | XP_011510119.1:n.1527+38601A>C | |
| XM_011511818.1:c.1527+38601A>C | XP_011510120.1:n.1527+38601A>C | |
| XM_011511819.1:c.1365+38601A>C | XP_011510121.1:n.1365+38601A>C | |
| XM_011511820.1:c.1341+38601A>C | XP_011510122.1:n.1341+38601A>C | |
| XM_011511821.1:c.1245+38601A>C | XP_011510123.1:n.1245+38601A>C | |
| XM_011511822.1:c.1218+38601A>C | XP_011510124.1:n.1218+38601A>C | |
| XM_011511823.1:c.1218+38601A>C | XP_011510125.1:n.1218+38601A>C | |
| XM_011511824.1:c.1528-10012A>C | XP_011510126.1:n.1528-10012A>C | |
| XM_011511825.1:c.1170+38601A>C | XP_011510127.1:n.1170+38601A>C | |
| XM_011511835.1:c.603+38601A>C | XP_011510137.1:n.603+38601A>C | |
| XM_011511836.1:c.603+38601A>C | XP_011510138.1:n.603+38601A>C | |
| XM_011511815.2:c.1527+38601A>C | XP_011510117.1:n.1527+38601A>C | |
| XM_011511816.3:c.1527+38601A>C | XP_011510118.1:n.1527+38601A>C | |
| XM_011511817.2:c.1527+38601A>C | XP_011510119.1:n.1527+38601A>C | |
| XM_011511818.2:c.1527+38601A>C | XP_011510120.1:n.1527+38601A>C | |
| XM_011511819.2:c.1365+38601A>C | XP_011510121.1:n.1365+38601A>C | |
| XM_011511820.2:c.1341+38601A>C | XP_011510122.1:n.1341+38601A>C | |
| XM_011511821.2:c.1245+38601A>C | XP_011510123.1:n.1245+38601A>C | |
| XM_011511823.3:c.1218+38601A>C | XP_011510125.1:n.1218+38601A>C | |
| XM_011511824.2:c.1528-10012A>C | XP_011510126.1:n.1528-10012A>C | |
| XM_017004896.1:c.1170+38601A>C | XP_016860385.1:n.1170+38601A>C | |
| XM_017004897.1:c.1170+38601A>C | XP_016860386.1:n.1170+38601A>C | |
| XM_017004898.1:c.804+38601A>C | XP_016860387.1:n.804+38601A>C | |
| XM_024453140.1:c.609+38601A>C | XP_024308908.1:n.609+38601A>C | |
| NM_024532.5:c.1527+38601A>C MANE Select | NP_078808.3:n.1527+38601A>C | |
| NR_047659.2:n.1722+38601A>C | ||
| NR_047660.2:n.1428+38601A>C |