Linked Data
ClinVar Variation Id:
295696
dbSNP Id:
rs568526447
ExAC:
1:22149980 G / A
gnomAD v2:
1-22149980-G-A
gnomAD v3:
1-21823487-G-A
gnomAD v4:
1-21823487-G-A
COSMIC:
COSM4691400
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21823487G>A , CM000663.2:g.21823487G>A | GRCh38 |
| NC_000001.10:g.22149980G>A , CM000663.1:g.22149980G>A | GRCh37 |
| NC_000001.9:g.22022567G>A | NCBI36 |
| NG_016740.1:g.118771C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344642.7:c.*1272G>A (LDLRAD2) MANE Select | ENSP00000340988.2:n.*1272G>A | |
| ENST00000374695.8:c.13005C>T (HSPG2) MANE Select | ENSP00000363827.3:p.Gly4335= | |
| ENST00000344642.6:c.*1272G>A (LDLRAD2) | ENSP00000340988.2:n.*1272G>A | |
| ENST00000374695.7:c.13005C>T (HSPG2) | ENSP00000363827.3:p.Gly4335= | |
| ENST00000481644.1:n.653C>T (HSPG2) | ||
| ENST00000486901.1:n.2344C>T (HSPG2) | ||
| ENST00000543870.1:c.*219-423G>A (LDLRAD2) | ENSP00000444097.1:n.*219-423G>A | |
| NM_001013693.2:c.*1272G>A (LDLRAD2) | NP_001013715.2:n.*1272G>A | |
| NM_001291860.1:c.13008C>T (HSPG2) | NP_001278789.1:p.Gly4336= | |
| NM_005529.6:c.13005C>T (HSPG2) | NP_005520.4:p.Gly4335= | |
| XM_006710594.2:c.13569C>T (HSPG2) | XP_006710657.1:p.Gly4523= | |
| XM_006710595.2:c.13521C>T (HSPG2) | XP_006710658.1:p.Gly4507= | |
| XM_006710596.2:c.13500C>T (HSPG2) | XP_006710659.1:p.Gly4500= | |
| XM_006710597.2:c.13023C>T (HSPG2) | XP_006710660.1:p.Gly4341= | |
| XM_011541317.1:c.13572C>T (HSPG2) | XP_011539619.1:p.Gly4524= | |
| XM_011541318.1:c.13554C>T (HSPG2) | XP_011539620.1:p.Gly4518= | |
| XM_011541319.1:c.13449C>T (HSPG2) | XP_011539621.1:p.Gly4483= | |
| XM_011541320.1:c.13293C>T (HSPG2) | XP_011539622.1:p.Gly4431= | |
| XM_011541321.1:c.13077C>T (HSPG2) | XP_011539623.1:p.Gly4359= | |
| XM_011541318.2:c.13554C>T (HSPG2) | XP_011539620.1:p.Gly4518= | |
| XM_017001120.1:c.13200C>T (HSPG2) | XP_016856609.1:p.Gly4400= | |
| XM_017001121.1:c.13149C>T (HSPG2) | XP_016856610.1:p.Gly4383= | |
| XM_017001122.1:c.13146C>T (HSPG2) | XP_016856611.1:p.Gly4382= | |
| NM_005529.7:c.13005C>T (HSPG2) MANE Select | NP_005520.4:p.Gly4335= | |
| NM_001013693.3:c.*1272G>A (LDLRAD2) MANE Select | NP_001013715.2:n.*1272G>A | |
| NM_001291860.2:c.13008C>T (HSPG2) | NP_001278789.1:p.Gly4336= |