Linked Data
dbSNP Id:
rs542485769
gnomAD v2:
16-83783880-G-A
gnomAD v3:
16-83750275-G-A
gnomAD v4:
16-83750275-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83750275G>A , CM000678.2:g.83750275G>A | GRCh38 |
| NC_000016.9:g.83783880G>A , CM000678.1:g.83783880G>A | GRCh37 |
| NC_000016.8:g.82341381G>A | NCBI36 |
| NG_052819.1:g.1128482G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690173.1:n.97+30868G>A (HSBP1) | ||
| ENST00000693379.1:n.97+30868G>A (HSBP1) | ||
| ENST00000693758.1:n.97+30868G>A (HSBP1) | ||
| ENST00000567109.6:c.1681+2025G>A (CDH13) MANE Select | ENSP00000479395.1:n.1681+2025G>A | |
| ENST00000268613.14:c.1822+2025G>A (CDH13) | ENSP00000268613.10:n.1822+2025G>A | |
| ENST00000428848.7:c.1564+2025G>A (CDH13) | ENSP00000394557.3:n.1564+2025G>A | |
| ENST00000539548.6:c.*1313+2025G>A (CDH13) | ENSP00000442225.2:n.*1313+2025G>A | |
| ENST00000566620.5:c.1645+2025G>A (CDH13) | ENSP00000454435.3:n.1645+2025G>A | |
| ENST00000567109.5:c.1681+2025G>A (CDH13) | ENSP00000479395.1:n.1681+2025G>A | |
| ENST00000615627.1:c.601+2025G>A (CDH13) | ENSP00000482651.1:n.601+2025G>A | |
| ENST00000622885.4:c.1525+2025G>A (CDH13) | ENSP00000483719.1:n.1525+2025G>A | |
| NM_001220488.1:c.1822+2025G>A (CDH13) | NP_001207417.1:n.1822+2025G>A | |
| NM_001220489.1:c.1564+2025G>A (CDH13) | NP_001207418.1:n.1564+2025G>A | |
| NM_001220490.1:c.919+2025G>A (CDH13) | NP_001207419.1:n.919+2025G>A | |
| NM_001257.4:c.1681+2025G>A (CDH13) | NP_001248.1:n.1681+2025G>A | |
| XM_011522804.1:c.1378+2025G>A (CDH13) | XP_011521106.1:n.1378+2025G>A | |
| XM_011522804.3:c.1378+2025G>A (CDH13) | XP_011521106.1:n.1378+2025G>A | |
| NM_001257.5:c.1681+2025G>A (CDH13) MANE Select | NP_001248.1:n.1681+2025G>A | |
| NM_001220488.2:c.1822+2025G>A (CDH13) | NP_001207417.1:n.1822+2025G>A | |
| NM_001220489.2:c.1564+2025G>A (CDH13) | NP_001207418.1:n.1564+2025G>A | |
| NM_001220490.2:c.919+2025G>A (CDH13) | NP_001207419.1:n.919+2025G>A |