Linked Data
ClinVar Variation Id:
295689
dbSNP Id:
rs575761790
gnomAD v2:
1-22149470-G-T
gnomAD v3:
1-21822977-G-T
gnomAD v4:
1-21822977-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21822977G>T , CM000663.2:g.21822977G>T | GRCh38 |
| NC_000001.10:g.22149470G>T , CM000663.1:g.22149470G>T | GRCh37 |
| NC_000001.9:g.22022057G>T | NCBI36 |
| NG_016740.1:g.119281C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344642.7:c.*762G>T (LDLRAD2) MANE Select | ENSP00000340988.2:n.*762G>T | |
| ENST00000374695.8:c.*339C>A (HSPG2) MANE Select | ENSP00000363827.3:n.*339C>A | |
| ENST00000344642.6:c.*762G>T (LDLRAD2) | ENSP00000340988.2:n.*762G>T | |
| ENST00000374695.7:c.*339C>A (HSPG2) | ENSP00000363827.3:n.*339C>A | |
| ENST00000486901.1:n.2854C>A (HSPG2) | ||
| ENST00000543870.1:c.*218+544G>T (LDLRAD2) | ENSP00000444097.1:n.*218+544G>T | |
| NM_001013693.2:c.*762G>T (LDLRAD2) | NP_001013715.2:n.*762G>T | |
| NM_001291860.1:c.*339C>A (HSPG2) | NP_001278789.1:n.*339C>A | |
| NM_005529.6:c.*339C>A (HSPG2) | NP_005520.4:n.*339C>A | |
| XM_005245873.3:c.*1310G>T (LDLRAD2) | XP_005245930.1:n.*1310G>T | |
| XM_006710594.2:c.*339C>A (HSPG2) | XP_006710657.1:n.*339C>A | |
| XM_006710595.2:c.*339C>A (HSPG2) | XP_006710658.1:n.*339C>A | |
| XM_006710596.2:c.*339C>A (HSPG2) | XP_006710659.1:n.*339C>A | |
| XM_006710597.2:c.*339C>A (HSPG2) | XP_006710660.1:n.*339C>A | |
| XM_011541317.1:c.*339C>A (HSPG2) | XP_011539619.1:n.*339C>A | |
| XM_011541318.1:c.*339C>A (HSPG2) | XP_011539620.1:n.*339C>A | |
| XM_011541319.1:c.*339C>A (HSPG2) | XP_011539621.1:n.*339C>A | |
| XM_011541320.1:c.*339C>A (HSPG2) | XP_011539622.1:n.*339C>A | |
| XM_011541321.1:c.*339C>A (HSPG2) | XP_011539623.1:n.*339C>A | |
| XM_011541318.2:c.*339C>A (HSPG2) | XP_011539620.1:n.*339C>A | |
| XM_017001120.1:c.*339C>A (HSPG2) | XP_016856609.1:n.*339C>A | |
| XM_017001121.1:c.*339C>A (HSPG2) | XP_016856610.1:n.*339C>A | |
| XM_017001122.1:c.*339C>A (HSPG2) | XP_016856611.1:n.*339C>A | |
| NM_005529.7:c.*339C>A (HSPG2) MANE Select | NP_005520.4:n.*339C>A | |
| NM_001013693.3:c.*762G>T (LDLRAD2) MANE Select | NP_001013715.2:n.*762G>T | |
| NM_001291860.2:c.*339C>A (HSPG2) | NP_001278789.1:n.*339C>A |