Linked Data
ClinVar Variation Id:
332902
ClinVar RCV Id:
RCV000312837
RCV000314113
RCV000394331
RCV000528891
RCV000338482
RCV001718704
RCV000367535
RCV003330642
dbSNP Id:
rs370604793
ExAC:
2:179574504 C / T
gnomAD v2:
2-179574504-C-T
gnomAD v3:
2-178709777-C-T
gnomAD v4:
2-178709777-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178709777C>T , CM000664.2:g.178709777C>T | GRCh38 |
| NC_000002.11:g.179574504C>T , CM000664.1:g.179574504C>T | GRCh37 |
| NC_000002.10:g.179282749C>T | NCBI36 |
| NG_011618.3:g.126026G>A , LRG_391:g.126026G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.24810G>A | ENSP00000343764.6:p.Glu8270= | |
| ENST00000342175.11:c.13858+28305G>A | ENSP00000340554.6:n.13858+28305G>A | |
| ENST00000359218.10:c.13657+28305G>A | ENSP00000352154.5:n.13657+28305G>A | |
| ENST00000342175.10:c.13858+28305G>A | ENSP00000340554.6:n.13858+28305G>A | |
| ENST00000342992.10:c.24810G>A | ENSP00000343764.6:p.Glu8270= | |
| ENST00000359218.9:c.13657+28305G>A | ENSP00000352154.5:n.13657+28305G>A | |
| ENST00000460472.6:c.13282+28305G>A | ENSP00000434586.1:n.13282+28305G>A | |
| ENST00000589042.5:c.28542G>A MANE Select | ENSP00000467141.1:p.Glu9514= | |
| ENST00000591111.5:c.27591G>A | ENSP00000465570.1:p.Glu9197= | |
| ENST00000615779.4:c.27591G>A | ENSP00000483597.1:p.Glu9197= | |
| NM_001256850.1:c.27591G>A | NP_001243779.1:p.Glu9197= | |
| NM_001267550.2:c.28542G>A MANE Select | NP_001254479.2:p.Glu9514= | |
| NM_003319.4:c.13282+28305G>A | NP_003310.4:n.13282+28305G>A | |
| NM_133378.4:c.24810G>A | NP_596869.4:p.Glu8270= | |
| NM_133432.3:c.13657+28305G>A | NP_597676.3:n.13657+28305G>A | |
| NM_133437.4:c.13858+28305G>A | NP_597681.4:n.13858+28305G>A | |
| XM_011511729.1:c.27639G>A | XP_011510031.1:p.Glu9213= | |
| XM_011511730.1:c.13468+28305G>A | XP_011510032.1:n.13468+28305G>A | |
| XM_011511731.1:c.13327+28305G>A | XP_011510033.1:n.13327+28305G>A | |
| XM_017004819.1:c.27594G>A | XP_016860308.1:p.Glu9198= | |
| XM_017004820.1:c.24813G>A | XP_016860309.1:p.Glu8271= | |
| XM_017004821.1:c.24810G>A | XP_016860310.1:p.Glu8270= | |
| XM_017004822.1:c.27594G>A | XP_016860311.1:p.Glu9198= | |
| XM_017004823.1:c.13423+28305G>A | XP_016860312.1:n.13423+28305G>A | |
| XM_024453094.1:c.27594G>A | XP_024308862.1:p.Glu9198= | |
| XM_024453095.1:c.27594G>A | XP_024308863.1:p.Glu9198= | |
| XM_024453096.1:c.27594G>A | XP_024308864.1:p.Glu9198= | |
| XM_024453097.1:c.27594G>A | XP_024308865.1:p.Glu9198= | |
| XM_024453098.1:c.27594G>A | XP_024308866.1:p.Glu9198= | |
| XM_024453099.1:c.13423+28305G>A | XP_024308867.1:n.13423+28305G>A |