Linked Data
ClinVar Variation Id:
722627
ClinVar RCV Id:
RCV000896293
dbSNP Id:
rs186329336
ExAC:
16:83817069 G / C
gnomAD v2:
16-83817069-G-C
gnomAD v3:
16-83783464-G-C
gnomAD v4:
16-83783464-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83783464G>C , CM000678.2:g.83783464G>C | GRCh38 |
| NC_000016.9:g.83817069G>C , CM000678.1:g.83817069G>C | GRCh37 |
| NC_000016.8:g.82374570G>C | NCBI36 |
| NG_052819.1:g.1161671G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690173.1:n.98-24571G>C (HSBP1) | ||
| ENST00000693379.1:n.98-24571G>C (HSBP1) | ||
| ENST00000693758.1:n.98-24571G>C (HSBP1) | ||
| ENST00000567109.6:c.2126G>C (CDH13) MANE Select | ENSP00000479395.1:p.Ser709Thr | |
| ENST00000268613.14:c.2267G>C (CDH13) | ENSP00000268613.10:p.Ser756Thr | |
| ENST00000428848.7:c.2009G>C (CDH13) | ENSP00000394557.3:p.Ser670Thr | |
| ENST00000539548.6:c.*1758G>C (CDH13) | ENSP00000442225.2:n.*1758G>C | |
| ENST00000566620.5:c.2090G>C (CDH13) | ENSP00000454435.3:p.Ser697Thr | |
| ENST00000567109.5:c.2126G>C (CDH13) | ENSP00000479395.1:p.Ser709Thr | |
| ENST00000615627.1:c.1046G>C (CDH13) | ENSP00000482651.1:p.Ser349Thr | |
| ENST00000622885.4:c.1970G>C (CDH13) | ENSP00000483719.1:p.Ser657Thr | |
| NM_001220488.1:c.2267G>C (CDH13) | NP_001207417.1:p.Ser756Thr | |
| NM_001220489.1:c.2009G>C (CDH13) | NP_001207418.1:p.Ser670Thr | |
| NM_001220490.1:c.1364G>C (CDH13) | NP_001207419.1:p.Ser455Thr | |
| NM_001257.4:c.2126G>C (CDH13) | NP_001248.1:p.Ser709Thr | |
| XM_011522804.1:c.1823G>C (CDH13) | XP_011521106.1:p.Ser608Thr | |
| XM_011522804.3:c.1823G>C (CDH13) | XP_011521106.1:p.Ser608Thr | |
| NM_001257.5:c.2126G>C (CDH13) MANE Select | NP_001248.1:p.Ser709Thr | |
| NM_001220488.2:c.2267G>C (CDH13) | NP_001207417.1:p.Ser756Thr | |
| NM_001220489.2:c.2009G>C (CDH13) | NP_001207418.1:p.Ser670Thr | |
| NM_001220490.2:c.1364G>C (CDH13) | NP_001207419.1:p.Ser455Thr |