Linked Data
ClinVar Variation Id:
130213
ClinVar RCV Id:
RCV000189212
RCV000678841
RCV000733650
RCV001265406
RCV001080949
RCV002316316
RCV003155918
dbSNP Id:
rs184769423
ExAC:
2:166170611 A / C
gnomAD v2:
2-166170611-A-C
gnomAD v3:
2-165314101-A-C
gnomAD v4:
2-165314101-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165314101A>C , CM000664.2:g.165314101A>C | GRCh38 |
| NC_000002.11:g.166170611A>C , CM000664.1:g.166170611A>C | GRCh37 |
| NC_000002.10:g.165878857A>C | NCBI36 |
| NG_008143.1:g.79700A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000631182.3:c.1376A>C MANE Plus Clinical | ENSP00000486885.1:p.Glu459Ala | |
| ENST00000375437.7:c.1376A>C MANE Select | ENSP00000364586.2:p.Glu459Ala | |
| ENST00000635945.1:n.1739A>C | ||
| ENST00000636071.2:c.1376A>C | ENSP00000490107.1:p.Glu459Ala | |
| ENST00000636135.1:c.1247A>C | ENSP00000489821.1:p.Glu416Ala | |
| ENST00000636384.2:c.1376A>C | ENSP00000490765.1:p.Glu459Ala | |
| ENST00000636662.2:c.*1899A>C | ENSP00000489873.1:n.*1899A>C | |
| ENST00000636769.1:c.1376A>C | ENSP00000490800.1:p.Glu459Ala | |
| ENST00000636985.2:c.980A>C | ENSP00000490849.1:p.Glu327Ala | |
| ENST00000637266.2:c.1376A>C | ENSP00000490866.1:p.Glu459Ala | |
| ENST00000637367.1:c.*1309A>C | ENSP00000490592.1:n.*1309A>C | |
| ENST00000638151.1:n.1460A>C | ||
| ENST00000283256.10:c.1376A>C | ENSP00000283256.6:p.Glu459Ala | |
| ENST00000375427.4:c.1376A>C | ENSP00000364576.2:p.Glu459Ala | |
| ENST00000375437.6:c.1376A>C | ENSP00000364586.2:p.Glu459Ala | |
| ENST00000424833.5:c.1376A>C | ENSP00000406454.2:p.Glu459Ala | |
| ENST00000480032.4:n.1519A>C | ||
| ENST00000631182.2:c.1376A>C | ENSP00000486885.1:p.Glu459Ala | |
| NM_001040142.1:c.1376A>C | NP_001035232.1:p.Glu459Ala | |
| NM_001040143.1:c.1376A>C | NP_001035233.1:p.Glu459Ala | |
| NM_021007.2:c.1376A>C | NP_066287.2:p.Glu459Ala | |
| XM_005246750.2:c.1376A>C | XP_005246807.1:p.Glu459Ala | |
| XM_005246753.2:c.1376A>C | XP_005246810.1:p.Glu459Ala | |
| XM_005246754.3:c.1346A>C | XP_005246811.1:p.Glu449Ala | |
| XM_005246755.3:c.623A>C | XP_005246812.1:p.Glu208Ala | |
| XM_011511608.1:c.1376A>C | XP_011509910.1:p.Glu459Ala | |
| XM_011511609.1:c.1376A>C | XP_011509911.1:p.Glu459Ala | |
| XM_005246753.3:c.1376A>C | XP_005246810.1:p.Glu459Ala | |
| XM_017004656.1:c.1376A>C | XP_016860145.1:p.Glu459Ala | |
| XM_017004657.1:c.1376A>C | XP_016860146.1:p.Glu459Ala | |
| XM_017004658.1:c.623A>C | XP_016860147.1:p.Glu208Ala | |
| XM_024453037.1:c.623A>C | XP_024308805.1:p.Glu208Ala | |
| NM_001040142.2:c.1376A>C MANE Select | NP_001035232.1:p.Glu459Ala | |
| NM_001040143.2:c.1376A>C | NP_001035233.1:p.Glu459Ala | |
| NM_001371246.1:c.1376A>C MANE Plus Clinical | NP_001358175.1:p.Glu459Ala | |
| NM_001371247.1:c.1376A>C | NP_001358176.1:p.Glu459Ala | |
| NM_021007.3:c.1376A>C | NP_066287.2:p.Glu459Ala |