Linked Data
ClinVar Variation Id:
46618
ClinVar RCV Id:
RCV000039888
RCV000172697
RCV000249224
RCV000660557
RCV000852909
RCV001131189
RCV001131186
RCV001131188
RCV001170649
RCV001081556
RCV001131187
RCV004534854
dbSNP Id:
rs72648940
ExAC:
2:179597242 C / A
gnomAD v2:
2-179597242-C-A
gnomAD v3:
2-178732515-C-A
gnomAD v4:
2-178732515-C-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178732515C>A , CM000664.2:g.178732515C>A | GRCh38 |
| NC_000002.11:g.179597242C>A , CM000664.1:g.179597242C>A | GRCh37 |
| NC_000002.10:g.179305487C>A | NCBI36 |
| NG_011618.3:g.103288G>T , LRG_391:g.103288G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.12814G>T | ENSP00000343764.6:p.Asp4272Tyr | |
| ENST00000342175.11:c.13858+5567G>T | ENSP00000340554.6:n.13858+5567G>T | |
| ENST00000359218.10:c.13657+5567G>T | ENSP00000352154.5:n.13657+5567G>T | |
| ENST00000342175.10:c.13858+5567G>T | ENSP00000340554.6:n.13858+5567G>T | |
| ENST00000342992.10:c.12814G>T | ENSP00000343764.6:p.Asp4272Tyr | |
| ENST00000359218.9:c.13657+5567G>T | ENSP00000352154.5:n.13657+5567G>T | |
| ENST00000460472.6:c.13282+5567G>T | ENSP00000434586.1:n.13282+5567G>T | |
| ENST00000589042.5:c.16546G>T MANE Select | ENSP00000467141.1:p.Asp5516Tyr | |
| ENST00000591111.5:c.15595G>T | ENSP00000465570.1:p.Asp5199Tyr | |
| ENST00000615779.4:c.15595G>T | ENSP00000483597.1:p.Asp5199Tyr | |
| NM_001256850.1:c.15595G>T | NP_001243779.1:p.Asp5199Tyr | |
| NM_001267550.2:c.16546G>T MANE Select | NP_001254479.2:p.Asp5516Tyr | |
| NM_003319.4:c.13282+5567G>T | NP_003310.4:n.13282+5567G>T | |
| NM_133378.4:c.12814G>T | NP_596869.4:p.Asp4272Tyr | |
| NM_133432.3:c.13657+5567G>T | NP_597676.3:n.13657+5567G>T | |
| NM_133437.4:c.13858+5567G>T | NP_597681.4:n.13858+5567G>T | |
| XM_011511729.1:c.15643G>T | XP_011510031.1:p.Asp5215Tyr | |
| XM_011511730.1:c.13468+5567G>T | XP_011510032.1:n.13468+5567G>T | |
| XM_011511731.1:c.13327+5567G>T | XP_011510033.1:n.13327+5567G>T | |
| XM_017004819.1:c.15598G>T | XP_016860308.1:p.Asp5200Tyr | |
| XM_017004820.1:c.12817G>T | XP_016860309.1:p.Asp4273Tyr | |
| XM_017004821.1:c.12814G>T | XP_016860310.1:p.Asp4272Tyr | |
| XM_017004822.1:c.15598G>T | XP_016860311.1:p.Asp5200Tyr | |
| XM_017004823.1:c.13423+5567G>T | XP_016860312.1:n.13423+5567G>T | |
| XM_024453094.1:c.15598G>T | XP_024308862.1:p.Asp5200Tyr | |
| XM_024453095.1:c.15598G>T | XP_024308863.1:p.Asp5200Tyr | |
| XM_024453096.1:c.15598G>T | XP_024308864.1:p.Asp5200Tyr | |
| XM_024453097.1:c.15598G>T | XP_024308865.1:p.Asp5200Tyr | |
| XM_024453098.1:c.15598G>T | XP_024308866.1:p.Asp5200Tyr | |
| XM_024453099.1:c.13423+5567G>T | XP_024308867.1:n.13423+5567G>T |