Linked Data
dbSNP Id:
rs12500426
gnomAD v2:
4-95514609-A-C
gnomAD v3:
4-94593458-A-C
gnomAD v4:
4-94593458-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.94593458A>C , CM000666.2:g.94593458A>C | GRCh38 |
| NC_000004.11:g.95514609A>C , CM000666.1:g.95514609A>C | GRCh37 |
| NC_000004.10:g.95733632A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317968.9:c.920+7014A>C MANE Select | ENSP00000321746.4:n.920+7014A>C | |
| ENST00000317968.8:c.920+7014A>C | ENSP00000321746.4:n.920+7014A>C | |
| ENST00000380176.7:n.813+7014A>C | ||
| ENST00000437932.5:c.-56+7014A>C | ENSP00000398469.2:n.-56+7014A>C | |
| ENST00000503974.5:c.611+7014A>C | ENSP00000424297.1:n.611+7014A>C | |
| ENST00000506632.2:c.148+7014A>C | ||
| ENST00000509357.5:c.405+7014A>C | ENSP00000422833.1:n.405+7014A>C | |
| ENST00000511586.5:n.359+7014A>C | ||
| ENST00000514743.5:c.611+7014A>C | ENSP00000424360.1:n.611+7014A>C | |
| ENST00000542407.5:c.593+7014A>C | ENSP00000442187.2:n.593+7014A>C | |
| ENST00000615540.4:c.611+7014A>C | ENSP00000480359.1:n.611+7014A>C | |
| ENST00000627587.2:c.*648+7014A>C | ENSP00000486938.1:n.*648+7014A>C | |
| NM_001011513.3:c.593+7014A>C | NP_001011513.3:n.593+7014A>C | |
| NM_001256425.1:c.-56+7014A>C | NP_001243354.1:n.-56+7014A>C | |
| NM_001256426.1:c.611+7014A>C | NP_001243355.1:n.611+7014A>C | |
| NM_001256427.1:c.611+7014A>C | NP_001243356.1:n.611+7014A>C | |
| NM_001256428.1:c.554+7014A>C | NP_001243357.1:n.554+7014A>C | |
| NM_006457.4:c.920+7014A>C | NP_006448.4:n.920+7014A>C | |
| XM_005262693.3:c.938+7014A>C | XP_005262750.1:n.938+7014A>C | |
| XM_005262695.3:c.920+7014A>C | XP_005262752.1:n.920+7014A>C | |
| XM_005262696.3:c.593+7014A>C | XP_005262753.1:n.593+7014A>C | |
| XM_005262698.3:c.611+7014A>C | XP_005262755.1:n.611+7014A>C | |
| XM_006714066.2:c.953+7014A>C | XP_006714129.1:n.953+7014A>C | |
| XM_006714067.2:c.953+7014A>C | XP_006714130.1:n.953+7014A>C | |
| XM_006714068.2:c.626+7014A>C | XP_006714131.1:n.626+7014A>C | |
| XM_006714069.2:c.953+7014A>C | XP_006714132.1:n.953+7014A>C | |
| XM_006714070.2:c.551+7014A>C | XP_006714133.1:n.551+7014A>C | |
| XM_011531543.1:c.536+7014A>C | XP_011529845.1:n.536+7014A>C | |
| XM_005262693.5:c.938+7014A>C | XP_005262750.1:n.938+7014A>C | |
| XM_005262695.5:c.920+7014A>C | XP_005262752.1:n.920+7014A>C | |
| XM_005262696.4:c.593+7014A>C | XP_005262753.1:n.593+7014A>C | |
| XM_005262698.4:c.611+7014A>C | XP_005262755.1:n.611+7014A>C | |
| XM_006714066.4:c.953+7014A>C | XP_006714129.1:n.953+7014A>C | |
| XM_006714068.3:c.626+7014A>C | XP_006714131.1:n.626+7014A>C | |
| XM_006714069.4:c.953+7014A>C | XP_006714132.1:n.953+7014A>C | |
| XM_006714070.3:c.551+7014A>C | XP_006714133.1:n.551+7014A>C | |
| XM_011531543.3:c.536+7014A>C | XP_011529845.1:n.536+7014A>C | |
| XM_017007657.2:c.938+7014A>C | XP_016863146.1:n.938+7014A>C | |
| XM_017007658.1:c.626+7014A>C | XP_016863147.1:n.626+7014A>C | |
| NM_001011513.4:c.593+7014A>C | NP_001011513.4:n.593+7014A>C | |
| NM_001256427.2:c.611+7014A>C | NP_001243356.2:n.611+7014A>C | |
| NM_001256428.2:c.554+7014A>C | NP_001243357.2:n.554+7014A>C | |
| NM_006457.5:c.920+7014A>C MANE Select | NP_006448.5:n.920+7014A>C | |
| NM_001256425.2:c.-56+7014A>C | NP_001243354.2:n.-56+7014A>C | |
| NM_001256426.2:c.611+7014A>C | NP_001243355.2:n.611+7014A>C |