Linked Data
ClinVar Variation Id:
512197
dbSNP Id:
rs559113689
ExAC:
2:179516161 A / G
gnomAD v2:
2-179516161-A-G
gnomAD v3:
2-178651434-A-G
gnomAD v4:
2-178651434-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178651434A>G , CM000664.2:g.178651434A>G | GRCh38 |
| NC_000002.11:g.179516161A>G , CM000664.1:g.179516161A>G | GRCh37 |
| NC_000002.10:g.179224406A>G | NCBI36 |
| NG_011618.3:g.184369T>C , LRG_391:g.184369T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.32245+19T>C | ENSP00000343764.6:n.32245+19T>C | |
| ENST00000342175.11:c.13859-9117T>C | ENSP00000340554.6:n.13859-9117T>C | |
| ENST00000359218.10:c.13658-9117T>C | ENSP00000352154.5:n.13658-9117T>C | |
| ENST00000342175.10:c.13859-9117T>C | ENSP00000340554.6:n.13859-9117T>C | |
| ENST00000342992.10:c.32245+19T>C | ENSP00000343764.6:n.32245+19T>C | |
| ENST00000359218.9:c.13658-9117T>C | ENSP00000352154.5:n.13658-9117T>C | |
| ENST00000414766.5:c.2441-9117T>C | ENSP00000401501.1:n.2441-9117T>C | |
| ENST00000426232.5:c.68+19T>C | ||
| ENST00000446966.1:c.64+19T>C | ENSP00000408004.1:n.64+19T>C | |
| ENST00000460472.6:c.13283-9117T>C | ENSP00000434586.1:n.13283-9117T>C | |
| ENST00000589042.5:c.39547+19T>C MANE Select | ENSP00000467141.1:n.39547+19T>C | |
| ENST00000591111.5:c.35026+19T>C | ENSP00000465570.1:n.35026+19T>C | |
| ENST00000615779.4:c.35026+19T>C | ENSP00000483597.1:n.35026+19T>C | |
| NM_001256850.1:c.35026+19T>C | NP_001243779.1:n.35026+19T>C | |
| NM_001267550.2:c.39547+19T>C MANE Select | NP_001254479.2:n.39547+19T>C | |
| NM_003319.4:c.13283-9117T>C | NP_003310.4:n.13283-9117T>C | |
| NM_133378.4:c.32245+19T>C | NP_596869.4:n.32245+19T>C | |
| NM_133432.3:c.13658-9117T>C | NP_597676.3:n.13658-9117T>C | |
| NM_133437.4:c.13859-9117T>C | NP_597681.4:n.13859-9117T>C | |
| XM_011511729.1:c.38644+19T>C | XP_011510031.1:n.38644+19T>C | |
| XM_011511730.1:c.13469-9117T>C | XP_011510032.1:n.13469-9117T>C | |
| XM_011511731.1:c.13328-9117T>C | XP_011510033.1:n.13328-9117T>C | |
| XM_017004819.1:c.38440+19T>C | XP_016860308.1:n.38440+19T>C | |
| XM_017004820.1:c.33838+19T>C | XP_016860309.1:n.33838+19T>C | |
| XM_017004821.1:c.33835+19T>C | XP_016860310.1:n.33835+19T>C | |
| XM_017004822.1:c.31859-9117T>C | XP_016860311.1:n.31859-9117T>C | |
| XM_017004823.1:c.13424-9117T>C | XP_016860312.1:n.13424-9117T>C | |
| XM_024453094.1:c.33988+19T>C | XP_024308862.1:n.33988+19T>C | |
| XM_024453095.1:c.33985+19T>C | XP_024308863.1:n.33985+19T>C | |
| XM_024453096.1:c.33418+19T>C | XP_024308864.1:n.33418+19T>C | |
| XM_024453097.1:c.31691-9117T>C | XP_024308865.1:n.31691-9117T>C | |
| XM_024453098.1:c.31610-9117T>C | XP_024308866.1:n.31610-9117T>C | |
| XM_024453099.1:c.13424-9117T>C | XP_024308867.1:n.13424-9117T>C | |
| XM_024453100.1:c.2296+19T>C | XP_024308868.1:n.2296+19T>C |