Linked Data
ClinVar Variation Id:
191971
ClinVar RCV Id:
RCV000172340
RCV000219175
RCV000469863
RCV000626790
RCV001131408
RCV001134387
RCV001134389
RCV001134390
RCV001134388
RCV002390415
RCV003150042
dbSNP Id:
rs201257644
ExAC:
2:179500777 C / T
gnomAD v2:
2-179500777-C-T
gnomAD v3:
2-178636050-C-T
gnomAD v4:
2-178636050-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178636050C>T , CM000664.2:g.178636050C>T | GRCh38 |
| NC_000002.11:g.179500777C>T , CM000664.1:g.179500777C>T | GRCh37 |
| NC_000002.10:g.179209022C>T | NCBI36 |
| NG_011618.3:g.199753G>A , LRG_391:g.199753G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.33817G>A | ENSP00000343764.6:p.Asp11273Asn | |
| ENST00000342175.11:c.14902G>A | ENSP00000340554.6:p.Asp4968Asn | |
| ENST00000359218.10:c.14701G>A | ENSP00000352154.5:p.Asp4901Asn | |
| ENST00000342175.10:c.14902G>A | ENSP00000340554.6:p.Asp4968Asn | |
| ENST00000342992.10:c.33817G>A | ENSP00000343764.6:p.Asp11273Asn | |
| ENST00000359218.9:c.14701G>A | ENSP00000352154.5:p.Asp4901Asn | |
| ENST00000460472.6:c.14326G>A | ENSP00000434586.1:p.Asp4776Asn | |
| ENST00000589042.5:c.41521G>A MANE Select | ENSP00000467141.1:p.Asp13841Asn | |
| ENST00000591111.5:c.36598G>A | ENSP00000465570.1:p.Asp12200Asn | |
| ENST00000615779.4:c.36598G>A | ENSP00000483597.1:p.Asp12200Asn | |
| NM_001256850.1:c.36598G>A | NP_001243779.1:p.Asp12200Asn | |
| NM_001267550.2:c.41521G>A MANE Select | NP_001254479.2:p.Asp13841Asn | |
| NM_003319.4:c.14326G>A | NP_003310.4:p.Asp4776Asn | |
| NM_133378.4:c.33817G>A | NP_596869.4:p.Asp11273Asn | |
| NM_133432.3:c.14701G>A | NP_597676.3:p.Asp4901Asn | |
| NM_133437.4:c.14902G>A | NP_597681.4:p.Asp4968Asn | |
| XM_011511729.1:c.40618G>A | XP_011510031.1:p.Asp13540Asn | |
| XM_011511730.1:c.14512G>A | XP_011510032.1:p.Asp4838Asn | |
| XM_011511731.1:c.14371G>A | XP_011510033.1:p.Asp4791Asn | |
| XM_017004819.1:c.40414G>A | XP_016860308.1:p.Asp13472Asn | |
| XM_017004820.1:c.35812G>A | XP_016860309.1:p.Asp11938Asn | |
| XM_017004821.1:c.35809G>A | XP_016860310.1:p.Asp11937Asn | |
| XM_017004822.1:c.32851G>A | XP_016860311.1:p.Asp10951Asn | |
| XM_017004823.1:c.14467G>A | XP_016860312.1:p.Asp4823Asn | |
| XM_024453094.1:c.35962G>A | XP_024308862.1:p.Asp11988Asn | |
| XM_024453095.1:c.35959G>A | XP_024308863.1:p.Asp11987Asn | |
| XM_024453096.1:c.35392G>A | XP_024308864.1:p.Asp11798Asn | |
| XM_024453097.1:c.32734G>A | XP_024308865.1:p.Asp10912Asn | |
| XM_024453098.1:c.32653G>A | XP_024308866.1:p.Asp10885Asn | |
| XM_024453099.1:c.14416G>A | XP_024308867.1:p.Asp4806Asn | |
| XM_024453100.1:c.4270G>A | XP_024308868.1:p.Asp1424Asn |