ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000446 (AFR)
Genomes Max Group AF
0.00000799 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044391C>A , CM000674.2:g.5044391C>A | GRCh38 |
| NC_000012.11:g.5153557C>A , CM000674.1:g.5153557C>A | GRCh37 |
| NC_000012.10:g.5023818C>A | NCBI36 |
| NG_012198.1:g.5473C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.244C>A MANE Select | ENSP00000252321.3:p.Pro82Thr | |
| ENST00000252321.4:c.244C>A | ENSP00000252321.3:p.Pro82Thr | |
| NM_002234.3:c.244C>A | NP_002225.2:p.Pro82Thr | |
| NM_002234.4:c.244C>A MANE Select | NP_002225.2:p.Pro82Thr |