ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00449071 (AFR)
Genomes Max Group AF
0.00474348 (AFR)
Exomes Max Group AF
0.00381173 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64751370G>A , CM000673.2:g.64751370G>A | GRCh38 |
| NC_000011.9:g.64518842G>A , CM000673.1:g.64518842G>A | GRCh37 |
| NC_000011.8:g.64275418G>A | NCBI36 |
| NG_013018.1:g.14346C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1924C>T MANE Select | ENSP00000164139.3:p.Arg642Cys | |
| ENST00000164139.3:c.1924C>T | ENSP00000164139.3:p.Arg642Cys | |
| ENST00000377432.7:c.1660C>T | ENSP00000366650.3:p.Arg554Cys | |
| ENST00000462303.1:n.248C>T | ||
| NM_001164716.1:c.1660C>T | NP_001158188.1:p.Arg554Cys | |
| NM_005609.2:c.1924C>T | NP_005600.1:p.Arg642Cys | |
| NM_005609.3:c.1924C>T | NP_005600.1:p.Arg642Cys | |
| NM_005609.4:c.1924C>T MANE Select | NP_005600.1:p.Arg642Cys |