Linked Data
ClinVar Variation Id:
295697
dbSNP Id:
rs376645617
ExAC:
1:22149986 C / T
gnomAD v2:
1-22149986-C-T
gnomAD v3:
1-21823493-C-T
gnomAD v4:
1-21823493-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21823493C>T , CM000663.2:g.21823493C>T | GRCh38 |
| NC_000001.10:g.22149986C>T , CM000663.1:g.22149986C>T | GRCh37 |
| NC_000001.9:g.22022573C>T | NCBI36 |
| NG_016740.1:g.118765G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344642.7:c.*1278C>T (LDLRAD2) MANE Select | ENSP00000340988.2:n.*1278C>T | |
| ENST00000374695.8:c.13004-5G>A (HSPG2) MANE Select | ENSP00000363827.3:n.13004-5G>A | |
| ENST00000344642.6:c.*1278C>T (LDLRAD2) | ENSP00000340988.2:n.*1278C>T | |
| ENST00000374695.7:c.13004-5G>A (HSPG2) | ENSP00000363827.3:n.13004-5G>A | |
| ENST00000481644.1:n.652-5G>A (HSPG2) | ||
| ENST00000486901.1:n.2343-5G>A (HSPG2) | ||
| ENST00000543870.1:c.*219-417C>T (LDLRAD2) | ENSP00000444097.1:n.*219-417C>T | |
| NM_001013693.2:c.*1278C>T (LDLRAD2) | NP_001013715.2:n.*1278C>T | |
| NM_001291860.1:c.13007-5G>A (HSPG2) | NP_001278789.1:n.13007-5G>A | |
| NM_005529.6:c.13004-5G>A (HSPG2) | NP_005520.4:n.13004-5G>A | |
| XM_006710594.2:c.13568-5G>A (HSPG2) | XP_006710657.1:n.13568-5G>A | |
| XM_006710595.2:c.13520-5G>A (HSPG2) | XP_006710658.1:n.13520-5G>A | |
| XM_006710596.2:c.13499-5G>A (HSPG2) | XP_006710659.1:n.13499-5G>A | |
| XM_006710597.2:c.13022-5G>A (HSPG2) | XP_006710660.1:n.13022-5G>A | |
| XM_011541317.1:c.13571-5G>A (HSPG2) | XP_011539619.1:n.13571-5G>A | |
| XM_011541318.1:c.13553-5G>A (HSPG2) | XP_011539620.1:n.13553-5G>A | |
| XM_011541319.1:c.13448-5G>A (HSPG2) | XP_011539621.1:n.13448-5G>A | |
| XM_011541320.1:c.13292-5G>A (HSPG2) | XP_011539622.1:n.13292-5G>A | |
| XM_011541321.1:c.13076-5G>A (HSPG2) | XP_011539623.1:n.13076-5G>A | |
| XM_011541318.2:c.13553-5G>A (HSPG2) | XP_011539620.1:n.13553-5G>A | |
| XM_017001120.1:c.13199-5G>A (HSPG2) | XP_016856609.1:n.13199-5G>A | |
| XM_017001121.1:c.13148-5G>A (HSPG2) | XP_016856610.1:n.13148-5G>A | |
| XM_017001122.1:c.13145-5G>A (HSPG2) | XP_016856611.1:n.13145-5G>A | |
| NM_005529.7:c.13004-5G>A (HSPG2) MANE Select | NP_005520.4:n.13004-5G>A | |
| NM_001013693.3:c.*1278C>T (LDLRAD2) MANE Select | NP_001013715.2:n.*1278C>T | |
| NM_001291860.2:c.13007-5G>A (HSPG2) | NP_001278789.1:n.13007-5G>A |