Linked Data
ClinVar Variation Id:
264051
ClinVar RCV Id:
RCV000242866
RCV000378788
RCV000770043
RCV000725863
RCV001086023
RCV001132685
RCV001132681
RCV001132683
RCV001132682
RCV001132684
dbSNP Id:
rs775954427
ExAC:
2:179506020 T / C
gnomAD v2:
2-179506020-T-C
gnomAD v3:
2-178641293-T-C
gnomAD v4:
2-178641293-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178641293T>C , CM000664.2:g.178641293T>C | GRCh38 |
| NC_000002.11:g.179506020T>C , CM000664.1:g.179506020T>C | GRCh37 |
| NC_000002.10:g.179214265T>C | NCBI36 |
| NG_011618.3:g.194510A>G , LRG_391:g.194510A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.32877A>G | ENSP00000343764.6:p.Glu10959= | |
| ENST00000342175.11:c.13962A>G | ENSP00000340554.6:p.Glu4654= | |
| ENST00000359218.10:c.13761A>G | ENSP00000352154.5:p.Glu4587= | |
| ENST00000342175.10:c.13962A>G | ENSP00000340554.6:p.Glu4654= | |
| ENST00000342992.10:c.32877A>G | ENSP00000343764.6:p.Glu10959= | |
| ENST00000359218.9:c.13761A>G | ENSP00000352154.5:p.Glu4587= | |
| ENST00000414766.5:c.2544A>G | ENSP00000401501.1:p.Glu848= | |
| ENST00000426232.5:c.597-663A>G | ||
| ENST00000446966.1:c.995-663A>G | ENSP00000408004.1:n.995-663A>G | |
| ENST00000460472.6:c.13386A>G | ENSP00000434586.1:p.Glu4462= | |
| ENST00000589042.5:c.40581A>G MANE Select | ENSP00000467141.1:p.Glu13527= | |
| ENST00000591111.5:c.35658A>G | ENSP00000465570.1:p.Glu11886= | |
| ENST00000615779.4:c.35658A>G | ENSP00000483597.1:p.Glu11886= | |
| NM_001256850.1:c.35658A>G | NP_001243779.1:p.Glu11886= | |
| NM_001267550.2:c.40581A>G MANE Select | NP_001254479.2:p.Glu13527= | |
| NM_003319.4:c.13386A>G | NP_003310.4:p.Glu4462= | |
| NM_133378.4:c.32877A>G | NP_596869.4:p.Glu10959= | |
| NM_133432.3:c.13761A>G | NP_597676.3:p.Glu4587= | |
| NM_133437.4:c.13962A>G | NP_597681.4:p.Glu4654= | |
| XM_011511729.1:c.39678A>G | XP_011510031.1:p.Glu13226= | |
| XM_011511730.1:c.13572A>G | XP_011510032.1:p.Glu4524= | |
| XM_011511731.1:c.13431A>G | XP_011510033.1:p.Glu4477= | |
| XM_017004819.1:c.39474A>G | XP_016860308.1:p.Glu13158= | |
| XM_017004820.1:c.34872A>G | XP_016860309.1:p.Glu11624= | |
| XM_017004821.1:c.34869A>G | XP_016860310.1:p.Glu11623= | |
| XM_017004822.1:c.31962A>G | XP_016860311.1:p.Glu10654= | |
| XM_017004823.1:c.13527A>G | XP_016860312.1:p.Glu4509= | |
| XM_024453094.1:c.35022A>G | XP_024308862.1:p.Glu11674= | |
| XM_024453095.1:c.35019A>G | XP_024308863.1:p.Glu11673= | |
| XM_024453096.1:c.34452A>G | XP_024308864.1:p.Glu11484= | |
| XM_024453097.1:c.31794A>G | XP_024308865.1:p.Glu10598= | |
| XM_024453098.1:c.31713A>G | XP_024308866.1:p.Glu10571= | |
| XM_024453099.1:c.13527A>G | XP_024308867.1:p.Glu4509= | |
| XM_024453100.1:c.3330A>G | XP_024308868.1:p.Glu1110= |