Linked Data
ClinVar Variation Id:
199234
dbSNP Id:
rs141280063
ExAC:
1:22150639 C / T
gnomAD v2:
1-22150639-C-T
gnomAD v3:
1-21824146-C-T
gnomAD v4:
1-21824146-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21824146C>T , CM000663.2:g.21824146C>T | GRCh38 |
| NC_000001.10:g.22150639C>T , CM000663.1:g.22150639C>T | GRCh37 |
| NC_000001.9:g.22023226C>T | NCBI36 |
| NG_016740.1:g.118112G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344642.7:c.*1931C>T (LDLRAD2) MANE Select | ENSP00000340988.2:n.*1931C>T | |
| ENST00000374695.8:c.12874G>A (HSPG2) MANE Select | ENSP00000363827.3:p.Glu4292Lys | |
| ENST00000344642.6:c.*1931C>T (LDLRAD2) | ENSP00000340988.2:n.*1931C>T | |
| ENST00000374695.7:c.12874G>A (HSPG2) | ENSP00000363827.3:p.Glu4292Lys | |
| ENST00000481644.1:n.121G>A (HSPG2) | ||
| ENST00000486901.1:n.2213G>A (HSPG2) | ||
| NM_001013693.2:c.*1931C>T (LDLRAD2) | NP_001013715.2:n.*1931C>T | |
| NM_001291860.1:c.12877G>A (HSPG2) | NP_001278789.1:p.Glu4293Lys | |
| NM_005529.6:c.12874G>A (HSPG2) | NP_005520.4:p.Glu4292Lys | |
| XM_006710594.2:c.13438G>A (HSPG2) | XP_006710657.1:p.Glu4480Lys | |
| XM_006710595.2:c.13390G>A (HSPG2) | XP_006710658.1:p.Glu4464Lys | |
| XM_006710596.2:c.13369G>A (HSPG2) | XP_006710659.1:p.Glu4457Lys | |
| XM_006710597.2:c.12892G>A (HSPG2) | XP_006710660.1:p.Glu4298Lys | |
| XM_011541317.1:c.13441G>A (HSPG2) | XP_011539619.1:p.Glu4481Lys | |
| XM_011541318.1:c.13423G>A (HSPG2) | XP_011539620.1:p.Glu4475Lys | |
| XM_011541319.1:c.13318G>A (HSPG2) | XP_011539621.1:p.Glu4440Lys | |
| XM_011541320.1:c.13162G>A (HSPG2) | XP_011539622.1:p.Glu4388Lys | |
| XM_011541321.1:c.12946G>A (HSPG2) | XP_011539623.1:p.Glu4316Lys | |
| XM_011541318.2:c.13423G>A (HSPG2) | XP_011539620.1:p.Glu4475Lys | |
| XM_017001120.1:c.13069G>A (HSPG2) | XP_016856609.1:p.Glu4357Lys | |
| XM_017001121.1:c.13018G>A (HSPG2) | XP_016856610.1:p.Glu4340Lys | |
| XM_017001122.1:c.13015G>A (HSPG2) | XP_016856611.1:p.Glu4339Lys | |
| NM_005529.7:c.12874G>A (HSPG2) MANE Select | NP_005520.4:p.Glu4292Lys | |
| NM_001013693.3:c.*1931C>T (LDLRAD2) MANE Select | NP_001013715.2:n.*1931C>T | |
| NM_001291860.2:c.12877G>A (HSPG2) | NP_001278789.1:p.Glu4293Lys |