Linked Data
ClinVar Variation Id:
229434
dbSNP Id:
rs372166634
ExAC:
2:179494176 C / T
gnomAD v2:
2-179494176-C-T
gnomAD v3:
2-178629449-C-T
gnomAD v4:
2-178629449-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178629449C>T , CM000664.2:g.178629449C>T | GRCh38 |
| NC_000002.11:g.179494176C>T , CM000664.1:g.179494176C>T | GRCh37 |
| NC_000002.10:g.179202421C>T | NCBI36 |
| NG_011618.3:g.206354G>A , LRG_391:g.206354G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36578-6G>A | ENSP00000343764.6:n.36578-6G>A | |
| ENST00000342175.11:c.17663-6G>A | ENSP00000340554.6:n.17663-6G>A | |
| ENST00000359218.10:c.17462-6G>A | ENSP00000352154.5:n.17462-6G>A | |
| ENST00000342175.10:c.17663-6G>A | ENSP00000340554.6:n.17663-6G>A | |
| ENST00000342992.10:c.36578-6G>A | ENSP00000343764.6:n.36578-6G>A | |
| ENST00000359218.9:c.17462-6G>A | ENSP00000352154.5:n.17462-6G>A | |
| ENST00000460472.6:c.17087-6G>A | ENSP00000434586.1:n.17087-6G>A | |
| ENST00000589042.5:c.44282-6G>A MANE Select | ENSP00000467141.1:n.44282-6G>A | |
| ENST00000591111.5:c.39359-6G>A | ENSP00000465570.1:n.39359-6G>A | |
| ENST00000615779.4:c.39359-6G>A | ENSP00000483597.1:n.39359-6G>A | |
| NM_001256850.1:c.39359-6G>A | NP_001243779.1:n.39359-6G>A | |
| NM_001267550.2:c.44282-6G>A MANE Select | NP_001254479.2:n.44282-6G>A | |
| NM_003319.4:c.17087-6G>A | NP_003310.4:n.17087-6G>A | |
| NM_133378.4:c.36578-6G>A | NP_596869.4:n.36578-6G>A | |
| NM_133432.3:c.17462-6G>A | NP_597676.3:n.17462-6G>A | |
| NM_133437.4:c.17663-6G>A | NP_597681.4:n.17663-6G>A | |
| XM_011511729.1:c.43379-6G>A | XP_011510031.1:n.43379-6G>A | |
| XM_011511730.1:c.17273-6G>A | XP_011510032.1:n.17273-6G>A | |
| XM_011511731.1:c.17132-6G>A | XP_011510033.1:n.17132-6G>A | |
| XM_017004819.1:c.43175-6G>A | XP_016860308.1:n.43175-6G>A | |
| XM_017004820.1:c.38573-6G>A | XP_016860309.1:n.38573-6G>A | |
| XM_017004821.1:c.38570-6G>A | XP_016860310.1:n.38570-6G>A | |
| XM_017004822.1:c.35612-6G>A | XP_016860311.1:n.35612-6G>A | |
| XM_017004823.1:c.17228-6G>A | XP_016860312.1:n.17228-6G>A | |
| XM_024453094.1:c.38723-6G>A | XP_024308862.1:n.38723-6G>A | |
| XM_024453095.1:c.38720-6G>A | XP_024308863.1:n.38720-6G>A | |
| XM_024453096.1:c.38153-6G>A | XP_024308864.1:n.38153-6G>A | |
| XM_024453097.1:c.35495-6G>A | XP_024308865.1:n.35495-6G>A | |
| XM_024453098.1:c.35414-6G>A | XP_024308866.1:n.35414-6G>A | |
| XM_024453099.1:c.17177-6G>A | XP_024308867.1:n.17177-6G>A | |
| XM_024453100.1:c.7031-6G>A | XP_024308868.1:n.7031-6G>A |