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:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00119914 (NFE)
Genomes Max Group AF
0.00114169 (NFE)
Exomes Max Group AF
0.00119072 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150806815G>A , CM000663.2:g.150806815G>A | GRCh38 |
| NC_000001.10:g.150779291G>A , CM000663.1:g.150779291G>A | GRCh37 |
| NC_000001.9:g.149045915G>A | NCBI36 |
| NG_011848.1:g.6522C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.-1-9C>T MANE Select | ENSP00000271651.3:n.-1-9C>T | |
| ENST00000443913.2:c.177-9C>T | ENSP00000405083.2:n.177-9C>T | |
| ENST00000480670.2:n.2599C>T | ||
| ENST00000676680.1:c.-1-9C>T | ENSP00000503270.1:n.-1-9C>T | |
| ENST00000676751.1:c.-1-9C>T | ENSP00000502964.1:n.-1-9C>T | |
| ENST00000676824.1:c.-1-9C>T | ENSP00000504176.1:n.-1-9C>T | |
| ENST00000676966.1:c.-1-9C>T | ENSP00000503723.1:n.-1-9C>T | |
| ENST00000676970.1:c.-1-9C>T | ENSP00000503832.1:n.-1-9C>T | |
| ENST00000677330.1:n.1365-9C>T | ||
| ENST00000677887.1:c.42-9C>T | ENSP00000503876.1:n.42-9C>T | |
| ENST00000678275.1:c.-1-9C>T | ENSP00000504796.1:n.-1-9C>T | |
| ENST00000678337.1:c.27C>T | ENSP00000504759.1:p.Phe9= | |
| ENST00000678725.1:n.977-9C>T | ||
| ENST00000679090.1:n.124-9C>T | ||
| ENST00000679148.1:n.871C>T | ||
| ENST00000679171.1:n.1891C>T | ||
| ENST00000679260.1:c.-1-9C>T | ENSP00000504534.1:n.-1-9C>T | |
| ENST00000271651.7:c.-1-9C>T | ENSP00000271651.3:n.-1-9C>T | |
| ENST00000443913.1:c.177-9C>T | ENSP00000405083.1:n.177-9C>T | |
| NM_000396.3:c.-1-9C>T | NP_000387.1:n.-1-9C>T | |
| NM_000396.4:c.-1-9C>T MANE Select | NP_000387.1:n.-1-9C>T |