Linked Data
ClinVar Variation Id:
179056
ClinVar RCV Id:
RCV000155840
RCV000179198
RCV001133776
RCV001135264
RCV001170644
RCV001133777
RCV001135263
RCV001135265
RCV001084052
RCV001293083
RCV004535002
dbSNP Id:
rs185962498
ExAC:
2:179595849 C / T
gnomAD v2:
2-179595849-C-T
gnomAD v3:
2-178731122-C-T
gnomAD v4:
2-178731122-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178731122C>T , CM000664.2:g.178731122C>T | GRCh38 |
| NC_000002.11:g.179595849C>T , CM000664.1:g.179595849C>T | GRCh37 |
| NC_000002.10:g.179304094C>T | NCBI36 |
| NG_011618.3:g.104681G>A , LRG_391:g.104681G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.13811G>A | ENSP00000343764.6:p.Gly4604Glu | |
| ENST00000342175.11:c.13858+6960G>A | ENSP00000340554.6:n.13858+6960G>A | |
| ENST00000359218.10:c.13657+6960G>A | ENSP00000352154.5:n.13657+6960G>A | |
| ENST00000342175.10:c.13858+6960G>A | ENSP00000340554.6:n.13858+6960G>A | |
| ENST00000342992.10:c.13811G>A | ENSP00000343764.6:p.Gly4604Glu | |
| ENST00000359218.9:c.13657+6960G>A | ENSP00000352154.5:n.13657+6960G>A | |
| ENST00000460472.6:c.13282+6960G>A | ENSP00000434586.1:n.13282+6960G>A | |
| ENST00000589042.5:c.17543G>A MANE Select | ENSP00000467141.1:p.Gly5848Glu | |
| ENST00000591111.5:c.16592G>A | ENSP00000465570.1:p.Gly5531Glu | |
| ENST00000615779.4:c.16592G>A | ENSP00000483597.1:p.Gly5531Glu | |
| NM_001256850.1:c.16592G>A | NP_001243779.1:p.Gly5531Glu | |
| NM_001267550.2:c.17543G>A MANE Select | NP_001254479.2:p.Gly5848Glu | |
| NM_003319.4:c.13282+6960G>A | NP_003310.4:n.13282+6960G>A | |
| NM_133378.4:c.13811G>A | NP_596869.4:p.Gly4604Glu | |
| NM_133432.3:c.13657+6960G>A | NP_597676.3:n.13657+6960G>A | |
| NM_133437.4:c.13858+6960G>A | NP_597681.4:n.13858+6960G>A | |
| XM_011511729.1:c.16640G>A | XP_011510031.1:p.Gly5547Glu | |
| XM_011511730.1:c.13468+6960G>A | XP_011510032.1:n.13468+6960G>A | |
| XM_011511731.1:c.13327+6960G>A | XP_011510033.1:n.13327+6960G>A | |
| XM_017004819.1:c.16595G>A | XP_016860308.1:p.Gly5532Glu | |
| XM_017004820.1:c.13814G>A | XP_016860309.1:p.Gly4605Glu | |
| XM_017004821.1:c.13811G>A | XP_016860310.1:p.Gly4604Glu | |
| XM_017004822.1:c.16595G>A | XP_016860311.1:p.Gly5532Glu | |
| XM_017004823.1:c.13423+6960G>A | XP_016860312.1:n.13423+6960G>A | |
| XM_024453094.1:c.16595G>A | XP_024308862.1:p.Gly5532Glu | |
| XM_024453095.1:c.16595G>A | XP_024308863.1:p.Gly5532Glu | |
| XM_024453096.1:c.16595G>A | XP_024308864.1:p.Gly5532Glu | |
| XM_024453097.1:c.16595G>A | XP_024308865.1:p.Gly5532Glu | |
| XM_024453098.1:c.16595G>A | XP_024308866.1:p.Gly5532Glu | |
| XM_024453099.1:c.13423+6960G>A | XP_024308867.1:n.13423+6960G>A |