This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0072681 (MID)
Genomes Max Group AF
0.00021485 (AMR)
Exomes Max Group AF
0.00778518 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24290814C>A , CM000668.2:g.24290814C>A | GRCh38 |
| NC_000006.11:g.24291042C>A , CM000668.1:g.24291042C>A | GRCh37 |
| NC_000006.10:g.24399021C>A | NCBI36 |
| NG_012829.1:g.72239G>T | |
| NG_012829.2:g.97479G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.704+118G>T MANE Select | ENSP00000367715.3:n.704+118G>T | |
| ENST00000378454.7:c.704+118G>T | ENSP00000367715.3:n.704+118G>T | |
| NM_001195610.1:c.704+118G>T | NP_001182539.1:n.704+118G>T | |
| NM_016356.4:c.704+118G>T | NP_057440.2:n.704+118G>T | |
| NM_016356.5:c.704+118G>T MANE Select | NP_057440.2:n.704+118G>T | |
| NM_001195610.2:c.704+118G>T | NP_001182539.1:n.704+118G>T |