Linked Data
ClinVar Variation Id:
233660
dbSNP Id:
rs876660554
gnomAD v2:
2-215593553-A-C
gnomAD v3:
2-214728829-A-C
gnomAD v4:
2-214728829-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728829A>C , CM000664.2:g.214728829A>C | GRCh38 |
| NC_000002.11:g.215593553A>C , CM000664.1:g.215593553A>C | GRCh37 |
| NC_000002.10:g.215301798A>C | NCBI36 |
| NG_012047.2:g.85876T>G | |
| NG_012047.3:g.85883T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2181T>G MANE Select | ENSP00000260947.4:p.Asp727Glu | |
| ENST00000421162.2:c.828T>G | ENSP00000392245.2:p.Asp276Glu | |
| ENST00000613192.2:c.*244T>G | ENSP00000483275.2:n.*244T>G | |
| ENST00000613374.5:c.771T>G | ENSP00000484464.1:p.Asp257Glu | |
| ENST00000613706.5:c.1773T>G | ENSP00000484976.2:p.Asp591Glu | |
| ENST00000617164.5:c.2124T>G | ENSP00000480470.1:p.Asp708Glu | |
| ENST00000619009.5:c.642T>G | ENSP00000482293.1:p.Asp214Glu | |
| ENST00000650978.1:c.3556T>G | ||
| ENST00000260947.8:c.2181T>G | ENSP00000260947.4:p.Asp727Glu | |
| ENST00000432456.5:c.324T>G | ||
| ENST00000455743.5:c.*1801T>G | ENSP00000412186.1:n.*1801T>G | |
| ENST00000471590.5:n.516T>G | ||
| ENST00000613192.1:c.351T>G | ENSP00000483275.1:p.Asp117Glu | |
| ENST00000613374.4:c.771T>G | ENSP00000484464.1:p.Asp257Glu | |
| ENST00000613706.4:c.828T>G | ENSP00000484976.1:p.Asp276Glu | |
| ENST00000617164.4:c.2124T>G | ENSP00000480470.1:p.Asp708Glu | |
| ENST00000619009.4:c.642T>G | ENSP00000482293.1:p.Asp214Glu | |
| ENST00000620057.4:c.*847T>G | ENSP00000481988.1:n.*847T>G | |
| NM_000465.3:c.2181T>G | NP_000456.2:p.Asp727Glu | |
| NM_001282543.1:c.2124T>G | NP_001269472.1:p.Asp708Glu | |
| NM_001282545.1:c.828T>G | NP_001269474.1:p.Asp276Glu | |
| NM_001282548.1:c.771T>G | NP_001269477.1:p.Asp257Glu | |
| NM_001282549.1:c.642T>G | NP_001269478.1:p.Asp214Glu | |
| NR_104212.1:n.2174T>G | ||
| NR_104215.1:n.2117T>G | ||
| NR_104216.1:n.1373T>G | ||
| XM_011511567.1:c.2127T>G | XP_011509869.1:p.Asp709Glu | |
| XM_017004613.1:c.2280T>G | XP_016860102.1:p.Asp760Glu | |
| XR_002959322.1:n.2547T>G | ||
| NM_000465.4:c.2181T>G MANE Select | NP_000456.2:p.Asp727Glu | |
| NM_001282543.2:c.2124T>G | NP_001269472.1:p.Asp708Glu | |
| NM_001282545.2:c.828T>G | NP_001269474.1:p.Asp276Glu | |
| NM_001282548.2:c.771T>G | NP_001269477.1:p.Asp257Glu | |
| NM_001282549.2:c.642T>G | NP_001269478.1:p.Asp214Glu | |
| NR_104212.2:n.2146T>G | ||
| NR_104215.2:n.2089T>G | ||
| NR_104216.2:n.1345T>G |