ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001145 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00001013 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57688609C>T , CM000673.2:g.57688609C>T | GRCh38 |
| NC_000011.9:g.57456081C>T , CM000673.1:g.57456081C>T | GRCh37 |
| NC_000011.8:g.57212657C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287169.8:c.328C>T MANE Select | ENSP00000287169.3:p.Arg110Cys | |
| ENST00000287169.7:c.328C>T | ENSP00000287169.3:p.Arg110Cys | |
| ENST00000527985.5:c.169C>T | ENSP00000432202.1:p.Arg57Cys | |
| ENST00000528177.5:c.22C>T | ENSP00000431209.1:p.Arg8Cys | |
| ENST00000529447.1:c.106C>T | ENSP00000435722.1:p.Arg36Cys | |
| ENST00000529480.1:n.444C>T | ||
| ENST00000532842.1:c.22C>T | ENSP00000435593.1:p.Arg8Cys | |
| NM_015457.2:c.328C>T | NP_056272.2:p.Arg110Cys | |
| XM_011544899.1:c.328C>T | XP_011543201.1:p.Arg110Cys | |
| XM_011544900.1:c.328C>T | XP_011543202.1:p.Arg110Cys | |
| XM_011544901.1:c.328C>T | XP_011543203.1:p.Arg110Cys | |
| XM_017017498.2:c.22C>T | XP_016872987.1:p.Arg8Cys | |
| XR_001747825.2:n.1476C>T | ||
| NM_015457.3:c.328C>T MANE Select | NP_056272.2:p.Arg110Cys |