Linked Data
ClinVar Variation Id:
295693
dbSNP Id:
rs116316900
ExAC:
1:22149840 G / T
gnomAD v2:
1-22149840-G-T
gnomAD v3:
1-21823347-G-T
gnomAD v4:
1-21823347-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21823347G>T , CM000663.2:g.21823347G>T | GRCh38 |
| NC_000001.10:g.22149840G>T , CM000663.1:g.22149840G>T | GRCh37 |
| NC_000001.9:g.22022427G>T | NCBI36 |
| NG_016740.1:g.118911C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344642.7:c.*1132G>T (LDLRAD2) MANE Select | ENSP00000340988.2:n.*1132G>T | |
| ENST00000374695.8:c.13145C>A (HSPG2) MANE Select | ENSP00000363827.3:p.Ala4382Asp | |
| ENST00000344642.6:c.*1132G>T (LDLRAD2) | ENSP00000340988.2:n.*1132G>T | |
| ENST00000374695.7:c.13145C>A (HSPG2) | ENSP00000363827.3:p.Ala4382Asp | |
| ENST00000481644.1:n.793C>A (HSPG2) | ||
| ENST00000486901.1:n.2484C>A (HSPG2) | ||
| ENST00000543870.1:c.*219-563G>T (LDLRAD2) | ENSP00000444097.1:n.*219-563G>T | |
| NM_001013693.2:c.*1132G>T (LDLRAD2) | NP_001013715.2:n.*1132G>T | |
| NM_001291860.1:c.13148C>A (HSPG2) | NP_001278789.1:p.Ala4383Asp | |
| NM_005529.6:c.13145C>A (HSPG2) | NP_005520.4:p.Ala4382Asp | |
| XM_006710594.2:c.13709C>A (HSPG2) | XP_006710657.1:p.Ala4570Asp | |
| XM_006710595.2:c.13661C>A (HSPG2) | XP_006710658.1:p.Ala4554Asp | |
| XM_006710596.2:c.13640C>A (HSPG2) | XP_006710659.1:p.Ala4547Asp | |
| XM_006710597.2:c.13163C>A (HSPG2) | XP_006710660.1:p.Ala4388Asp | |
| XM_011541317.1:c.13712C>A (HSPG2) | XP_011539619.1:p.Ala4571Asp | |
| XM_011541318.1:c.13694C>A (HSPG2) | XP_011539620.1:p.Ala4565Asp | |
| XM_011541319.1:c.13589C>A (HSPG2) | XP_011539621.1:p.Ala4530Asp | |
| XM_011541320.1:c.13433C>A (HSPG2) | XP_011539622.1:p.Ala4478Asp | |
| XM_011541321.1:c.13217C>A (HSPG2) | XP_011539623.1:p.Ala4406Asp | |
| XM_011541318.2:c.13694C>A (HSPG2) | XP_011539620.1:p.Ala4565Asp | |
| XM_017001120.1:c.13340C>A (HSPG2) | XP_016856609.1:p.Ala4447Asp | |
| XM_017001121.1:c.13289C>A (HSPG2) | XP_016856610.1:p.Ala4430Asp | |
| XM_017001122.1:c.13286C>A (HSPG2) | XP_016856611.1:p.Ala4429Asp | |
| NM_005529.7:c.13145C>A (HSPG2) MANE Select | NP_005520.4:p.Ala4382Asp | |
| NM_001013693.3:c.*1132G>T (LDLRAD2) MANE Select | NP_001013715.2:n.*1132G>T | |
| NM_001291860.2:c.13148C>A (HSPG2) | NP_001278789.1:p.Ala4383Asp |