gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34670655 (NFE)
Genomes Max Group AF
0.34670655 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.94641726C>T , CM000666.2:g.94641726C>T | GRCh38 |
| NC_000004.11:g.95562877C>T , CM000666.1:g.95562877C>T | GRCh37 |
| NC_000004.10:g.95781900C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317968.9:c.1283+1276C>T MANE Select | ENSP00000321746.4:n.1283+1276C>T | |
| ENST00000317968.8:c.1283+1276C>T | ENSP00000321746.4:n.1283+1276C>T | |
| ENST00000380176.7:n.1176+1276C>T | ||
| ENST00000437932.5:c.308+1276C>T | ENSP00000398469.2:n.308+1276C>T | |
| ENST00000503974.5:c.974+1276C>T | ENSP00000424297.1:n.974+1276C>T | |
| ENST00000506632.2:c.511+1276C>T | ||
| ENST00000514743.5:c.1370+1276C>T | ENSP00000424360.1:n.1370+1276C>T | |
| ENST00000542407.5:c.956+1276C>T | ENSP00000442187.2:n.956+1276C>T | |
| ENST00000615540.4:c.1370+1276C>T | ENSP00000480359.1:n.1370+1276C>T | |
| ENST00000627587.2:c.*1011+1276C>T | ENSP00000486938.1:n.*1011+1276C>T | |
| NM_001011513.3:c.956+1276C>T | NP_001011513.3:n.956+1276C>T | |
| NM_001256425.1:c.308+1276C>T | NP_001243354.1:n.308+1276C>T | |
| NM_001256426.1:c.1370+1276C>T | NP_001243355.1:n.1370+1276C>T | |
| NM_001256427.1:c.974+1276C>T | NP_001243356.1:n.974+1276C>T | |
| NM_001256428.1:c.917+1276C>T | NP_001243357.1:n.917+1276C>T | |
| NM_006457.4:c.1283+1276C>T | NP_006448.4:n.1283+1276C>T | |
| XM_005262693.3:c.1697+1276C>T | XP_005262750.1:n.1697+1276C>T | |
| XM_005262695.3:c.1679+1276C>T | XP_005262752.1:n.1679+1276C>T | |
| XM_005262696.3:c.1352+1276C>T | XP_005262753.1:n.1352+1276C>T | |
| XM_005262698.3:c.974+1276C>T | XP_005262755.1:n.974+1276C>T | |
| XM_006714066.2:c.1712+1276C>T | XP_006714129.1:n.1712+1276C>T | |
| XM_006714067.2:c.1712+1276C>T | XP_006714130.1:n.1712+1276C>T | |
| XM_006714068.2:c.1385+1276C>T | XP_006714131.1:n.1385+1276C>T | |
| XM_006714069.2:c.1316+1276C>T | XP_006714132.1:n.1316+1276C>T | |
| XM_006714070.2:c.1310+1276C>T | XP_006714133.1:n.1310+1276C>T | |
| XM_011531543.1:c.1295+1276C>T | XP_011529845.1:n.1295+1276C>T | |
| XM_005262693.5:c.1697+1276C>T | XP_005262750.1:n.1697+1276C>T | |
| XM_005262695.5:c.1679+1276C>T | XP_005262752.1:n.1679+1276C>T | |
| XM_005262696.4:c.1352+1276C>T | XP_005262753.1:n.1352+1276C>T | |
| XM_005262698.4:c.974+1276C>T | XP_005262755.1:n.974+1276C>T | |
| XM_006714066.4:c.1712+1276C>T | XP_006714129.1:n.1712+1276C>T | |
| XM_006714068.3:c.1385+1276C>T | XP_006714131.1:n.1385+1276C>T | |
| XM_006714069.4:c.1316+1276C>T | XP_006714132.1:n.1316+1276C>T | |
| XM_006714070.3:c.1310+1276C>T | XP_006714133.1:n.1310+1276C>T | |
| XM_011531543.3:c.1295+1276C>T | XP_011529845.1:n.1295+1276C>T | |
| XM_017007657.2:c.1301+1276C>T | XP_016863146.1:n.1301+1276C>T | |
| XM_017007658.1:c.989+1276C>T | XP_016863147.1:n.989+1276C>T | |
| NM_001011513.4:c.956+1276C>T | NP_001011513.4:n.956+1276C>T | |
| NM_001256427.2:c.974+1276C>T | NP_001243356.2:n.974+1276C>T | |
| NM_001256428.2:c.917+1276C>T | NP_001243357.2:n.917+1276C>T | |
| NM_006457.5:c.1283+1276C>T MANE Select | NP_006448.5:n.1283+1276C>T | |
| NM_001256425.2:c.308+1276C>T | NP_001243354.2:n.308+1276C>T | |
| NM_001256426.2:c.1370+1276C>T | NP_001243355.2:n.1370+1276C>T |