gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00594117 (MID)
Genomes Max Group AF
0.0056629 (AMR)
Exomes Max Group AF
0.00604661 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.55013526G>T , CM000685.2:g.55013526G>T | GRCh38 |
| NC_000023.10:g.55039959G>T , CM000685.1:g.55039959G>T | GRCh37 |
| NC_000023.9:g.55056684G>T | NCBI36 |
| NG_008983.1:g.22539C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650242.1:c.1560C>A MANE Select | ENSP00000497236.1:p.Pro520= | |
| ENST00000330807.9:c.1560C>A | ENSP00000332369.5:p.Pro520= | |
| ENST00000335854.8:c.1449C>A | ENSP00000337131.4:p.Pro483= | |
| ENST00000396198.7:c.1521C>A | ENSP00000379501.3:p.Pro507= | |
| ENST00000498636.1:n.728+1221C>A | ||
| NM_000032.4:c.1560C>A | NP_000023.2:p.Pro520= | |
| NM_001037967.3:c.1449C>A | NP_001033056.1:p.Pro483= | |
| NM_001037968.3:c.1521C>A | NP_001033057.1:p.Pro507= | |
| XM_005261995.2:c.1632C>A | XP_005262052.1:p.Pro544= | |
| XM_011530771.1:c.699C>A | XP_011529073.1:p.Pro233= | |
| NM_000032.5:c.1560C>A MANE Select | NP_000023.2:p.Pro520= | |
| NM_001037967.4:c.1449C>A | NP_001033056.1:p.Pro483= | |
| NM_001037968.4:c.1521C>A | NP_001033057.1:p.Pro507= |