Linked Data
ClinVar Variation Id:
499443
dbSNP Id:
rs145687082
ExAC:
1:22149967 C / T
gnomAD v2:
1-22149967-C-T
gnomAD v3:
1-21823474-C-T
gnomAD v4:
1-21823474-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21823474C>T , CM000663.2:g.21823474C>T | GRCh38 |
| NC_000001.10:g.22149967C>T , CM000663.1:g.22149967C>T | GRCh37 |
| NC_000001.9:g.22022554C>T | NCBI36 |
| NG_016740.1:g.118784G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344642.7:c.*1259C>T (LDLRAD2) MANE Select | ENSP00000340988.2:n.*1259C>T | |
| ENST00000374695.8:c.13018G>A (HSPG2) MANE Select | ENSP00000363827.3:p.Val4340Met | |
| ENST00000344642.6:c.*1259C>T (LDLRAD2) | ENSP00000340988.2:n.*1259C>T | |
| ENST00000374695.7:c.13018G>A (HSPG2) | ENSP00000363827.3:p.Val4340Met | |
| ENST00000481644.1:n.666G>A (HSPG2) | ||
| ENST00000486901.1:n.2357G>A (HSPG2) | ||
| ENST00000543870.1:c.*219-436C>T (LDLRAD2) | ENSP00000444097.1:n.*219-436C>T | |
| NM_001013693.2:c.*1259C>T (LDLRAD2) | NP_001013715.2:n.*1259C>T | |
| NM_001291860.1:c.13021G>A (HSPG2) | NP_001278789.1:p.Val4341Met | |
| NM_005529.6:c.13018G>A (HSPG2) | NP_005520.4:p.Val4340Met | |
| XM_006710594.2:c.13582G>A (HSPG2) | XP_006710657.1:p.Val4528Met | |
| XM_006710595.2:c.13534G>A (HSPG2) | XP_006710658.1:p.Val4512Met | |
| XM_006710596.2:c.13513G>A (HSPG2) | XP_006710659.1:p.Val4505Met | |
| XM_006710597.2:c.13036G>A (HSPG2) | XP_006710660.1:p.Val4346Met | |
| XM_011541317.1:c.13585G>A (HSPG2) | XP_011539619.1:p.Val4529Met | |
| XM_011541318.1:c.13567G>A (HSPG2) | XP_011539620.1:p.Val4523Met | |
| XM_011541319.1:c.13462G>A (HSPG2) | XP_011539621.1:p.Val4488Met | |
| XM_011541320.1:c.13306G>A (HSPG2) | XP_011539622.1:p.Val4436Met | |
| XM_011541321.1:c.13090G>A (HSPG2) | XP_011539623.1:p.Val4364Met | |
| XM_011541318.2:c.13567G>A (HSPG2) | XP_011539620.1:p.Val4523Met | |
| XM_017001120.1:c.13213G>A (HSPG2) | XP_016856609.1:p.Val4405Met | |
| XM_017001121.1:c.13162G>A (HSPG2) | XP_016856610.1:p.Val4388Met | |
| XM_017001122.1:c.13159G>A (HSPG2) | XP_016856611.1:p.Val4387Met | |
| NM_005529.7:c.13018G>A (HSPG2) MANE Select | NP_005520.4:p.Val4340Met | |
| NM_001013693.3:c.*1259C>T (LDLRAD2) MANE Select | NP_001013715.2:n.*1259C>T | |
| NM_001291860.2:c.13021G>A (HSPG2) | NP_001278789.1:p.Val4341Met |