COSMIC:
COSM3999956 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.84224181 (AMR)
Genomes Max Group AF
0.82910413 (AMR)
Exomes Max Group AF
0.84370074 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83783414A>G , CM000678.2:g.83783414A>G | GRCh38 |
| NC_000016.9:g.83817019A>G , CM000678.1:g.83817019A>G | GRCh37 |
| NC_000016.8:g.82374520A>G | NCBI36 |
| NG_052819.1:g.1161621A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690173.1:n.98-24621A>G (HSBP1) | ||
| ENST00000693379.1:n.98-24621A>G (HSBP1) | ||
| ENST00000693758.1:n.98-24621A>G (HSBP1) | ||
| ENST00000567109.6:c.2076A>G (CDH13) MANE Select | ENSP00000479395.1:p.Ala692= | |
| ENST00000268613.14:c.2217A>G (CDH13) | ENSP00000268613.10:p.Ala739= | |
| ENST00000428848.7:c.1959A>G (CDH13) | ENSP00000394557.3:p.Ala653= | |
| ENST00000539548.6:c.*1708A>G (CDH13) | ENSP00000442225.2:n.*1708A>G | |
| ENST00000566620.5:c.2040A>G (CDH13) | ENSP00000454435.3:p.Ala680= | |
| ENST00000567109.5:c.2076A>G (CDH13) | ENSP00000479395.1:p.Ala692= | |
| ENST00000615627.1:c.996A>G (CDH13) | ENSP00000482651.1:p.Ala332= | |
| ENST00000622885.4:c.1920A>G (CDH13) | ENSP00000483719.1:p.Ala640= | |
| NM_001220488.1:c.2217A>G (CDH13) | NP_001207417.1:p.Ala739= | |
| NM_001220489.1:c.1959A>G (CDH13) | NP_001207418.1:p.Ala653= | |
| NM_001220490.1:c.1314A>G (CDH13) | NP_001207419.1:p.Ala438= | |
| NM_001257.4:c.2076A>G (CDH13) | NP_001248.1:p.Ala692= | |
| XM_011522804.1:c.1773A>G (CDH13) | XP_011521106.1:p.Ala591= | |
| XM_011522804.3:c.1773A>G (CDH13) | XP_011521106.1:p.Ala591= | |
| NM_001257.5:c.2076A>G (CDH13) MANE Select | NP_001248.1:p.Ala692= | |
| NM_001220488.2:c.2217A>G (CDH13) | NP_001207417.1:p.Ala739= | |
| NM_001220489.2:c.1959A>G (CDH13) | NP_001207418.1:p.Ala653= | |
| NM_001220490.2:c.1314A>G (CDH13) | NP_001207419.1:p.Ala438= |