Linked Data
ClinVar Variation Id:
46585
ClinVar RCV Id:
RCV000039855
RCV000185316
RCV000554346
RCV000769089
RCV000619842
RCV001132041
RCV001132979
RCV001132980
RCV001132981
RCV001132982
dbSNP Id:
rs55906845
ExAC:
2:179602948 G / T
gnomAD v2:
2-179602948-G-T
gnomAD v3:
2-178738221-G-T
gnomAD v4:
2-178738221-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178738221G>T , CM000664.2:g.178738221G>T | GRCh38 |
| NC_000002.11:g.179602948G>T , CM000664.1:g.179602948G>T | GRCh37 |
| NC_000002.10:g.179311193G>T | NCBI36 |
| NG_011618.3:g.97582C>A , LRG_391:g.97582C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.10500C>A | ENSP00000343764.6:p.Asp3500Glu | |
| ENST00000342175.11:c.13719C>A | ENSP00000340554.6:p.Asp4573Glu | |
| ENST00000359218.10:c.13518C>A | ENSP00000352154.5:p.Asp4506Glu | |
| ENST00000342175.10:c.13719C>A | ENSP00000340554.6:p.Asp4573Glu | |
| ENST00000342992.10:c.10500C>A | ENSP00000343764.6:p.Asp3500Glu | |
| ENST00000359218.9:c.13518C>A | ENSP00000352154.5:p.Asp4506Glu | |
| ENST00000460472.6:c.13143C>A | ENSP00000434586.1:p.Asp4381Glu | |
| ENST00000589042.5:c.14232C>A MANE Select | ENSP00000467141.1:p.Asp4744Glu | |
| ENST00000591111.5:c.13281C>A | ENSP00000465570.1:p.Asp4427Glu | |
| ENST00000615779.4:c.13281C>A | ENSP00000483597.1:p.Asp4427Glu | |
| NM_001256850.1:c.13281C>A | NP_001243779.1:p.Asp4427Glu | |
| NM_001267550.2:c.14232C>A MANE Select | NP_001254479.2:p.Asp4744Glu | |
| NM_003319.4:c.13143C>A | NP_003310.4:p.Asp4381Glu | |
| NM_133378.4:c.10500C>A | NP_596869.4:p.Asp3500Glu | |
| NM_133432.3:c.13518C>A | NP_597676.3:p.Asp4506Glu | |
| NM_133437.4:c.13719C>A | NP_597681.4:p.Asp4573Glu | |
| XM_011511729.1:c.13329C>A | XP_011510031.1:p.Asp4443Glu | |
| XM_011511730.1:c.13329C>A | XP_011510032.1:p.Asp4443Glu | |
| XM_011511731.1:c.13188C>A | XP_011510033.1:p.Asp4396Glu | |
| XM_017004819.1:c.13284C>A | XP_016860308.1:p.Asp4428Glu | |
| XM_017004820.1:c.10503C>A | XP_016860309.1:p.Asp3501Glu | |
| XM_017004821.1:c.10500C>A | XP_016860310.1:p.Asp3500Glu | |
| XM_017004822.1:c.13284C>A | XP_016860311.1:p.Asp4428Glu | |
| XM_017004823.1:c.13284C>A | XP_016860312.1:p.Asp4428Glu | |
| XM_024453094.1:c.13284C>A | XP_024308862.1:p.Asp4428Glu | |
| XM_024453095.1:c.13284C>A | XP_024308863.1:p.Asp4428Glu | |
| XM_024453096.1:c.13284C>A | XP_024308864.1:p.Asp4428Glu | |
| XM_024453097.1:c.13284C>A | XP_024308865.1:p.Asp4428Glu | |
| XM_024453098.1:c.13284C>A | XP_024308866.1:p.Asp4428Glu | |
| XM_024453099.1:c.13284C>A | XP_024308867.1:p.Asp4428Glu |