Linked Data
ClinVar Variation Id:
837722
ClinVar RCV Id:
RCV001039117
dbSNP Id:
rs761570342
ExAC:
1:43218255 C / T
gnomAD v2:
1-43218255-C-T
gnomAD v3:
1-42752584-C-T
gnomAD v4:
1-42752584-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42752584C>T , CM000663.2:g.42752584C>T | GRCh38 |
| NC_000001.10:g.43218255C>T , CM000663.1:g.43218255C>T | GRCh37 |
| NC_000001.9:g.42990842C>T | NCBI36 |
| NG_008123.1:g.19501G>A , LRG_5:g.19501G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296388.10:c.1426G>A MANE Select | ENSP00000296388.5:p.Gly476Ser | |
| ENST00000236040.8:c.1426G>A | ENSP00000236040.4:p.Gly476Ser | |
| ENST00000296388.9:c.1426G>A | ENSP00000296388.5:p.Gly476Ser | |
| ENST00000397054.7:c.1426G>A | ENSP00000380245.3:p.Gly476Ser | |
| ENST00000431412.3:c.248G>A | ||
| ENST00000447502.2:n.200G>A | ||
| ENST00000460031.5:n.1618G>A | ||
| ENST00000481465.3:n.149G>A | ||
| ENST00000495874.5:n.1706G>A | ||
| NM_001146289.1:c.1426G>A , LRG_5t2:c.1426G>A | NP_001139761.1:p.Gly476Ser | |
| NM_001243246.1:c.1426G>A , LRG_5t3:c.1426G>A | NP_001230175.1:p.Gly476Ser | |
| NM_022356.3:c.1426G>A , LRG_5t1:c.1426G>A | NP_071751.3:p.Gly476Ser | |
| XM_005271110.2:c.418G>A | XP_005271167.1:p.Gly140Ser | |
| XM_011541947.1:c.451G>A | XP_011540249.1:p.Gly151Ser | |
| XM_011541948.1:c.451G>A | XP_011540250.1:p.Gly151Ser | |
| XM_011541949.1:c.448G>A | XP_011540251.1:p.Gly150Ser | |
| XM_017002051.2:c.451G>A | XP_016857540.1:p.Gly151Ser | |
| XM_017002052.2:c.448G>A | XP_016857541.1:p.Gly150Ser | |
| XR_946739.2:n.1551G>A | ||
| NM_022356.4:c.1426G>A MANE Select | NP_071751.3:p.Gly476Ser | |
| NM_001146289.2:c.1426G>A | NP_001139761.1:p.Gly476Ser | |
| NM_001243246.2:c.1426G>A | NP_001230175.1:p.Gly476Ser |