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
0.00672237 (NFE)
Genomes Max Group AF
0.00590095 (NFE)
Exomes Max Group AF
0.00674609 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96254826G>A , CM000664.2:g.96254826G>A | GRCh38 |
| NC_000002.11:g.96920564G>A , CM000664.1:g.96920564G>A | GRCh37 |
| NC_000002.10:g.96284291G>A | NCBI36 |
| NG_027695.1:g.16188C>T , LRG_528:g.16188C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.409+7C>T MANE Select | ENSP00000258439.3:n.409+7C>T | |
| ENST00000258439.7:c.409+7C>T | ENSP00000258439.2:n.409+7C>T | |
| ENST00000432959.1:c.409+7C>T | ENSP00000416660.1:n.409+7C>T | |
| ENST00000435268.1:c.157+7C>T | ENSP00000411810.1:n.157+7C>T | |
| NM_001193304.2:c.409+7C>T | NP_001180233.1:n.409+7C>T | |
| NM_017849.3:c.409+7C>T , LRG_528t1:c.409+7C>T | NP_060319.1:n.409+7C>T | |
| XM_017004450.1:c.-510+7C>T | XP_016859939.1:n.-510+7C>T | |
| XM_017004452.1:c.157+7C>T | XP_016859941.1:n.157+7C>T | |
| NM_001193304.3:c.409+7C>T | NP_001180233.1:n.409+7C>T | |
| NM_017849.4:c.409+7C>T MANE Select | NP_060319.1:n.409+7C>T |