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
0.00050582 (NFE)
Genomes Max Group AF
0.00031679 (NFE)
Exomes Max Group AF
0.00051068 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35033639G>A , CM000681.2:g.35033639G>A | GRCh38 |
| NC_000019.9:g.35524543G>A , CM000681.1:g.35524543G>A | GRCh37 |
| NC_000019.8:g.40216383G>A | NCBI36 |
| NG_013359.1:g.7952G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415950.5:c.348G>A | ENSP00000396915.2:p.Ser116= | |
| ENST00000262631.11:c.348G>A MANE Select | ENSP00000262631.3:p.Ser116= | |
| ENST00000415950.4:c.348G>A | ENSP00000396915.2:p.Ser116= | |
| ENST00000596348.2:c.249G>A | ENSP00000492247.1:p.Ser83= | |
| ENST00000638536.1:c.348G>A | ENSP00000492022.1:p.Ser116= | |
| ENST00000640135.1:c.249G>A | ENSP00000492655.1:p.Ser83= | |
| ENST00000675741.1:c.249G>A | ENSP00000502395.1:p.Ser83= | |
| ENST00000676410.1:c.249G>A | ENSP00000502717.1:p.Ser83= | |
| ENST00000262631.9:c.348G>A | ENSP00000262631.3:p.Ser116= | |
| ENST00000415950.3:c.348G>A | ENSP00000396915.2:p.Ser116= | |
| ENST00000595652.5:c.208-73G>A | ENSP00000468848.1:n.208-73G>A | |
| ENST00000596348.1:n.357G>A | ||
| NM_001037.4:c.348G>A | NP_001028.1:p.Ser116= | |
| NM_199037.3:c.348G>A | NP_950238.1:p.Ser116= | |
| XM_005259144.1:c.249G>A | XP_005259201.1:p.Ser83= | |
| NM_001321605.1:c.249G>A | NP_001308534.1:p.Ser83= | |
| NM_199037.4:c.348G>A | NP_950238.1:p.Ser116= | |
| NM_001037.5:c.348G>A MANE Select | NP_001028.1:p.Ser116= | |
| NM_001321605.2:c.249G>A | NP_001308534.1:p.Ser83= | |
| NM_199037.5:c.348G>A | NP_950238.1:p.Ser116= |