Linked Data
ClinVar Variation Id:
3019005
ClinVar RCV Id:
RCV003871636
dbSNP Id:
rs755001529
ExAC:
1:237024457 G / A
gnomAD v2:
1-237024457-G-A
gnomAD v3:
1-236861157-G-A
gnomAD v4:
1-236861157-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236861157G>A , CM000663.2:g.236861157G>A | GRCh38 |
| NC_000001.10:g.237024457G>A , CM000663.1:g.237024457G>A | GRCh37 |
| NC_000001.9:g.235091080G>A | NCBI36 |
| NG_008959.1:g.70877G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366577.10:c.2076G>A MANE Select | ENSP00000355536.5:p.Glu692= | |
| ENST00000535889.6:c.2044-1079G>A | ENSP00000441845.1:n.2044-1079G>A | |
| ENST00000650888.1:c.*1118G>A | ENSP00000498393.1:n.*1118G>A | |
| ENST00000651455.1:c.*820G>A | ENSP00000498963.1:n.*820G>A | |
| ENST00000674797.2:c.1728G>A | ENSP00000502299.2:p.Glu576= | |
| ENST00000679569.1:n.2390G>A | ||
| ENST00000679842.1:c.2076G>A | ENSP00000506109.1:p.Glu692= | |
| ENST00000680454.1:n.2520G>A | ||
| ENST00000681102.1:c.1896G>A | ENSP00000505600.1:p.Glu632= | |
| ENST00000681177.1:c.1638G>A | ENSP00000506327.1:p.Glu546= | |
| ENST00000681937.1:n.2270G>A | ||
| ENST00000366576.3:c.738G>A | ENSP00000355535.3:p.Glu246= | |
| ENST00000366577.9:c.2076G>A | ENSP00000355536.5:p.Glu692= | |
| ENST00000535889.5:c.2044-1079G>A | ENSP00000441845.1:n.2044-1079G>A | |
| NM_000254.2:c.2076G>A | NP_000245.2:p.Glu692= | |
| NM_001291939.1:c.2044-1079G>A | NP_001278868.1:n.2044-1079G>A | |
| NM_001291940.1:c.855G>A | NP_001278869.1:p.Glu285= | |
| XM_005273141.3:c.2073G>A | XP_005273198.1:p.Glu691= | |
| XM_006711769.2:c.2076G>A | XP_006711832.1:p.Glu692= | |
| XM_006711770.1:c.1140G>A | XP_006711833.1:p.Glu380= | |
| XM_011544193.1:c.2076G>A | XP_011542495.1:p.Glu692= | |
| XM_011544194.1:c.2244G>A | XP_011542496.1:p.Glu748= | |
| XM_005273141.5:c.2073G>A | XP_005273198.1:p.Glu691= | |
| XM_006711770.3:c.1140G>A | XP_006711833.1:p.Glu380= | |
| XM_011544194.3:c.2244G>A | XP_011542496.1:p.Glu748= | |
| XM_017001329.2:c.2212-1079G>A | XP_016856818.1:n.2212-1079G>A | |
| XM_017001330.2:c.2244G>A | XP_016856819.1:p.Glu748= | |
| NM_001291940.2:c.855G>A | NP_001278869.1:p.Glu285= | |
| NM_000254.3:c.2076G>A MANE Select | NP_000245.2:p.Glu692= |