Linked Data
ClinVar Variation Id:
235565
dbSNP Id:
rs142482046
ExAC:
6:24533753 A / C
gnomAD v2:
6-24533753-A-C
gnomAD v3:
6-24533525-A-C
gnomAD v4:
6-24533525-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24533525A>C , CM000668.2:g.24533525A>C | GRCh38 |
| NC_000006.11:g.24533753A>C , CM000668.1:g.24533753A>C | GRCh37 |
| NC_000006.10:g.24641732A>C | NCBI36 |
| NG_008161.1:g.43557A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.1421A>C MANE Select | ENSP00000350191.3:p.Asp474Ala | |
| ENST00000479394.2:n.536A>C | ||
| ENST00000672352.1:c.1040A>C | ENSP00000500876.1:p.Asp347Ala | |
| ENST00000672652.1:c.1384A>C | ||
| ENST00000348925.2:c.1460A>C | ENSP00000314649.3:p.Asp487Ala | |
| ENST00000357578.7:c.1421A>C | ENSP00000350191.3:p.Asp474Ala | |
| ENST00000479394.1:n.536A>C | ||
| ENST00000491546.5:c.1337A>C | ENSP00000417687.1:p.Asp446Ala | |
| ENST00000492697.1:n.187A>C | ||
| NM_001080.3:c.1421A>C MANE Select | NP_001071.1:p.Asp474Ala | |
| NM_170740.1:c.1460A>C | NP_733936.1:p.Asp487Ala | |
| NM_001368954.1:c.1277A>C | NP_001355883.1:p.Asp426Ala |