This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar Variation:
dbSNP:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42927651T>C , CM000663.2:g.42927651T>C | GRCh38 |
| NC_000001.10:g.43393322T>C , CM000663.1:g.43393322T>C | GRCh37 |
| NC_000001.9:g.43165909T>C | NCBI36 |
| NG_008232.1:g.36526A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.1232A>G MANE Select | ENSP00000416293.2:p.Asn411Ser | |
| ENST00000674545.1:n.1849A>G | ||
| ENST00000674765.1:c.1030-794A>G | ENSP00000501811.1:n.1030-794A>G | |
| ENST00000675112.1:n.1533A>G | ||
| ENST00000676254.1:n.1681A>G | ||
| ENST00000426263.7:c.1232A>G | ENSP00000416293.2:p.Asn411Ser | |
| ENST00000475162.3:c.416-673A>G | ||
| ENST00000630287.2:c.*547A>G | ENSP00000486694.1:n.*547A>G | |
| NM_006516.2:c.1232A>G | NP_006507.2:p.Asn411Ser | |
| NM_006516.3:c.1232A>G | NP_006507.2:p.Asn411Ser | |
| NM_006516.4:c.1232A>G MANE Select | NP_006507.2:p.Asn411Ser |