Linked Data
ClinVar Variation Id:
514724
ClinVar RCV Id:
RCV000607148
RCV001133483
RCV001133484
RCV001134975
RCV001134976
RCV001134977
RCV003767692
dbSNP Id:
rs752099208
ExAC:
2:179543467 C / T
gnomAD v2:
2-179543467-C-T
gnomAD v4:
2-178678740-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178678740C>T , CM000664.2:g.178678740C>T | GRCh38 |
| NC_000002.11:g.179543467C>T , CM000664.1:g.179543467C>T | GRCh37 |
| NC_000002.10:g.179251712C>T | NCBI36 |
| NG_011618.3:g.157063G>A , LRG_391:g.157063G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.30094+7G>A | ENSP00000343764.6:n.30094+7G>A | |
| ENST00000342175.11:c.13859-36423G>A | ENSP00000340554.6:n.13859-36423G>A | |
| ENST00000359218.10:c.13658-36423G>A | ENSP00000352154.5:n.13658-36423G>A | |
| ENST00000342175.10:c.13859-36423G>A | ENSP00000340554.6:n.13859-36423G>A | |
| ENST00000342992.10:c.30094+7G>A | ENSP00000343764.6:n.30094+7G>A | |
| ENST00000359218.9:c.13658-36423G>A | ENSP00000352154.5:n.13658-36423G>A | |
| ENST00000414766.5:c.2098+7G>A | ENSP00000401501.1:n.2098+7G>A | |
| ENST00000460472.6:c.13283-36423G>A | ENSP00000434586.1:n.13283-36423G>A | |
| ENST00000589042.5:c.33826+7G>A MANE Select | ENSP00000467141.1:n.33826+7G>A | |
| ENST00000591111.5:c.32875+7G>A | ENSP00000465570.1:n.32875+7G>A | |
| ENST00000615779.4:c.32875+7G>A | ENSP00000483597.1:n.32875+7G>A | |
| NM_001256850.1:c.32875+7G>A | NP_001243779.1:n.32875+7G>A | |
| NM_001267550.2:c.33826+7G>A MANE Select | NP_001254479.2:n.33826+7G>A | |
| NM_003319.4:c.13283-36423G>A | NP_003310.4:n.13283-36423G>A | |
| NM_133378.4:c.30094+7G>A | NP_596869.4:n.30094+7G>A | |
| NM_133432.3:c.13658-36423G>A | NP_597676.3:n.13658-36423G>A | |
| NM_133437.4:c.13859-36423G>A | NP_597681.4:n.13859-36423G>A | |
| XM_011511729.1:c.32923+7G>A | XP_011510031.1:n.32923+7G>A | |
| XM_011511730.1:c.13469-36423G>A | XP_011510032.1:n.13469-36423G>A | |
| XM_011511731.1:c.13328-36423G>A | XP_011510033.1:n.13328-36423G>A | |
| XM_017004819.1:c.32878+7G>A | XP_016860308.1:n.32878+7G>A | |
| XM_017004820.1:c.30097+7G>A | XP_016860309.1:n.30097+7G>A | |
| XM_017004821.1:c.30094+7G>A | XP_016860310.1:n.30094+7G>A | |
| XM_017004822.1:c.31516+7G>A | XP_016860311.1:n.31516+7G>A | |
| XM_017004823.1:c.13424-36423G>A | XP_016860312.1:n.13424-36423G>A | |
| XM_024453094.1:c.32878+7G>A | XP_024308862.1:n.32878+7G>A | |
| XM_024453095.1:c.32878+7G>A | XP_024308863.1:n.32878+7G>A | |
| XM_024453096.1:c.32308+7G>A | XP_024308864.1:n.32308+7G>A | |
| XM_024453097.1:c.31348+7G>A | XP_024308865.1:n.31348+7G>A | |
| XM_024453098.1:c.31267+7G>A | XP_024308866.1:n.31267+7G>A | |
| XM_024453099.1:c.13424-36423G>A | XP_024308867.1:n.13424-36423G>A |