Linked Data
ClinVar Variation Id:
434525
dbSNP Id:
rs148196794
gnomAD v2:
17-41277393-G-A
gnomAD v3:
17-43125376-G-A
gnomAD v4:
17-43125376-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43125376G>A , CM000679.2:g.43125376G>A | GRCh38 |
| NC_000017.10:g.41277393G>A , CM000679.1:g.41277393G>A | GRCh37 |
| NC_000017.9:g.38530919G>A | NCBI36 |
| NG_005905.2:g.92608C>T , LRG_292:g.92608C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493919.6:c.-206C>T | ENSP00000418819.2:n.-206C>T | |
| ENST00000494123.6:c.-119C>T | ENSP00000419103.2:n.-119C>T | |
| ENST00000634433.2:c.-19-1261C>T | ENSP00000489431.2:n.-19-1261C>T | |
| ENST00000652672.2:c.-379C>T | ENSP00000498906.2:n.-379C>T | |
| ENST00000471181.7:c.-125C>T | ENSP00000418960.2:n.-125C>T | |
| ENST00000652672.1:c.-379C>T | ENSP00000498906.1:n.-379C>T | |
| ENST00000468300.5:c.-119C>T | ENSP00000417148.1:n.-119C>T | |
| ENST00000471181.6:c.-125C>T | ENSP00000418960.2:n.-125C>T | |
| ENST00000493795.5:c.-206C>T | ENSP00000418775.1:n.-206C>T | |
| ENST00000493919.5:c.-206C>T | ENSP00000418819.1:n.-206C>T | |
| ENST00000494123.5:c.-119C>T | ENSP00000419103.1:n.-119C>T | |
| ENST00000634433.1:c.-19-1261C>T | ENSP00000489431.1:n.-19-1261C>T | |
| NM_007294.3:c.-125C>T , LRG_292t1:c.-125C>T | NP_009225.1:n.-125C>T | |
| NM_007297.3:c.-206C>T | NP_009228.2:n.-206C>T | |
| NM_007299.3:c.-119C>T | NP_009230.2:n.-119C>T | |
| NM_007300.3:c.-125C>T | NP_009231.2:n.-125C>T |