Linked Data
ClinVar Variation Id:
223350
dbSNP Id:
rs749931280
gnomAD v2:
2-179514543-C-A
gnomAD v3:
2-178649816-C-A
gnomAD v4:
2-178649816-C-A
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178649816C>A , CM000664.2:g.178649816C>A | GRCh38 |
| NC_000002.11:g.179514543C>A , CM000664.1:g.179514543C>A | GRCh37 |
| NC_000002.10:g.179222788C>A | NCBI36 |
| NG_011618.3:g.185987G>T , LRG_391:g.185987G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.32593+1G>T | ENSP00000343764.6:n.32593+1G>T | |
| ENST00000342175.11:c.13859-7499G>T | ENSP00000340554.6:n.13859-7499G>T | |
| ENST00000359218.10:c.13658-7499G>T | ENSP00000352154.5:n.13658-7499G>T | |
| ENST00000342175.10:c.13859-7499G>T | ENSP00000340554.6:n.13859-7499G>T | |
| ENST00000342992.10:c.32593+1G>T | ENSP00000343764.6:n.32593+1G>T | |
| ENST00000359218.9:c.13658-7499G>T | ENSP00000352154.5:n.13658-7499G>T | |
| ENST00000414766.5:c.2441-7499G>T | ENSP00000401501.1:n.2441-7499G>T | |
| ENST00000426232.5:c.416+1G>T | ||
| ENST00000446966.1:c.412+1G>T | ENSP00000408004.1:n.412+1G>T | |
| ENST00000460472.6:c.13283-7499G>T | ENSP00000434586.1:n.13283-7499G>T | |
| ENST00000589042.5:c.39895+1G>T MANE Select | ENSP00000467141.1:n.39895+1G>T | |
| ENST00000591111.5:c.35374+1G>T | ENSP00000465570.1:n.35374+1G>T | |
| ENST00000615779.4:c.35374+1G>T | ENSP00000483597.1:n.35374+1G>T | |
| NM_001256850.1:c.35374+1G>T | NP_001243779.1:n.35374+1G>T | |
| NM_001267550.2:c.39895+1G>T MANE Select | NP_001254479.2:n.39895+1G>T | |
| NM_003319.4:c.13283-7499G>T | NP_003310.4:n.13283-7499G>T | |
| NM_133378.4:c.32593+1G>T | NP_596869.4:n.32593+1G>T | |
| NM_133432.3:c.13658-7499G>T | NP_597676.3:n.13658-7499G>T | |
| NM_133437.4:c.13859-7499G>T | NP_597681.4:n.13859-7499G>T | |
| XM_011511729.1:c.38992+1G>T | XP_011510031.1:n.38992+1G>T | |
| XM_011511730.1:c.13469-7499G>T | XP_011510032.1:n.13469-7499G>T | |
| XM_011511731.1:c.13328-7499G>T | XP_011510033.1:n.13328-7499G>T | |
| XM_017004819.1:c.38788+1G>T | XP_016860308.1:n.38788+1G>T | |
| XM_017004820.1:c.34186+1G>T | XP_016860309.1:n.34186+1G>T | |
| XM_017004821.1:c.34183+1G>T | XP_016860310.1:n.34183+1G>T | |
| XM_017004822.1:c.31859-7499G>T | XP_016860311.1:n.31859-7499G>T | |
| XM_017004823.1:c.13424-7499G>T | XP_016860312.1:n.13424-7499G>T | |
| XM_024453094.1:c.34336+1G>T | XP_024308862.1:n.34336+1G>T | |
| XM_024453095.1:c.34333+1G>T | XP_024308863.1:n.34333+1G>T | |
| XM_024453096.1:c.33766+1G>T | XP_024308864.1:n.33766+1G>T | |
| XM_024453097.1:c.31691-7499G>T | XP_024308865.1:n.31691-7499G>T | |
| XM_024453098.1:c.31610-7499G>T | XP_024308866.1:n.31610-7499G>T | |
| XM_024453099.1:c.13424-7499G>T | XP_024308867.1:n.13424-7499G>T | |
| XM_024453100.1:c.2644+1G>T | XP_024308868.1:n.2644+1G>T |