Linked Data
ClinVar Variation Id:
332874
ClinVar RCV Id:
RCV000288909
RCV000290238
RCV000324376
RCV000328989
RCV000377729
RCV000592340
RCV002521347
dbSNP Id:
rs551963261
ExAC:
2:179504772 C / T
gnomAD v2:
2-179504772-C-T
gnomAD v3:
2-178640045-C-T
gnomAD v4:
2-178640045-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178640045C>T , CM000664.2:g.178640045C>T | GRCh38 |
| NC_000002.11:g.179504772C>T , CM000664.1:g.179504772C>T | GRCh37 |
| NC_000002.10:g.179213017C>T | NCBI36 |
| NG_011618.3:g.195758G>A , LRG_391:g.195758G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.33082+3G>A | ENSP00000343764.6:n.33082+3G>A | |
| ENST00000342175.11:c.14167+3G>A | ENSP00000340554.6:n.14167+3G>A | |
| ENST00000359218.10:c.13966+3G>A | ENSP00000352154.5:n.13966+3G>A | |
| ENST00000342175.10:c.14167+3G>A | ENSP00000340554.6:n.14167+3G>A | |
| ENST00000342992.10:c.33082+3G>A | ENSP00000343764.6:n.33082+3G>A | |
| ENST00000359218.9:c.13966+3G>A | ENSP00000352154.5:n.13966+3G>A | |
| ENST00000414766.5:c.2749+3G>A | ENSP00000401501.1:n.2749+3G>A | |
| ENST00000426232.5:c.749+3G>A | ||
| ENST00000460472.6:c.13591+3G>A | ENSP00000434586.1:n.13591+3G>A | |
| ENST00000589042.5:c.40786+3G>A MANE Select | ENSP00000467141.1:n.40786+3G>A | |
| ENST00000591111.5:c.35863+3G>A | ENSP00000465570.1:n.35863+3G>A | |
| ENST00000615779.4:c.35863+3G>A | ENSP00000483597.1:n.35863+3G>A | |
| NM_001256850.1:c.35863+3G>A | NP_001243779.1:n.35863+3G>A | |
| NM_001267550.2:c.40786+3G>A MANE Select | NP_001254479.2:n.40786+3G>A | |
| NM_003319.4:c.13591+3G>A | NP_003310.4:n.13591+3G>A | |
| NM_133378.4:c.33082+3G>A | NP_596869.4:n.33082+3G>A | |
| NM_133432.3:c.13966+3G>A | NP_597676.3:n.13966+3G>A | |
| NM_133437.4:c.14167+3G>A | NP_597681.4:n.14167+3G>A | |
| XM_011511729.1:c.39883+3G>A | XP_011510031.1:n.39883+3G>A | |
| XM_011511730.1:c.13777+3G>A | XP_011510032.1:n.13777+3G>A | |
| XM_011511731.1:c.13636+3G>A | XP_011510033.1:n.13636+3G>A | |
| XM_017004819.1:c.39679+3G>A | XP_016860308.1:n.39679+3G>A | |
| XM_017004820.1:c.35077+3G>A | XP_016860309.1:n.35077+3G>A | |
| XM_017004821.1:c.35074+3G>A | XP_016860310.1:n.35074+3G>A | |
| XM_017004822.1:c.32167+3G>A | XP_016860311.1:n.32167+3G>A | |
| XM_017004823.1:c.13732+3G>A | XP_016860312.1:n.13732+3G>A | |
| XM_024453094.1:c.35227+3G>A | XP_024308862.1:n.35227+3G>A | |
| XM_024453095.1:c.35224+3G>A | XP_024308863.1:n.35224+3G>A | |
| XM_024453096.1:c.34657+3G>A | XP_024308864.1:n.34657+3G>A | |
| XM_024453097.1:c.31999+3G>A | XP_024308865.1:n.31999+3G>A | |
| XM_024453098.1:c.31918+3G>A | XP_024308866.1:n.31918+3G>A | |
| XM_024453099.1:c.13732+3G>A | XP_024308867.1:n.13732+3G>A | |
| XM_024453100.1:c.3535+3G>A | XP_024308868.1:n.3535+3G>A |