gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000878 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000835 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351334C>T , CM000677.2:g.38351334C>T | GRCh38 |
| NC_000015.9:g.38643535C>T , CM000677.1:g.38643535C>T | GRCh37 |
| NC_000015.8:g.36430827C>T | NCBI36 |
| NG_008980.1:g.103484C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.1005C>T MANE Select | ENSP00000299084.4:p.Cys335= | |
| ENST00000299084.8:c.1005C>T | ENSP00000299084.4:p.Cys335= | |
| NM_152594.2:c.1005C>T | NP_689807.1:p.Cys335= | |
| XM_005254202.2:c.1041C>T | XP_005254259.1:p.Cys347= | |
| XM_005254203.3:c.783C>T | XP_005254260.1:p.Cys261= | |
| XM_011521288.1:c.942C>T | XP_011519590.1:p.Cys314= | |
| XM_011521289.1:c.942C>T | XP_011519591.1:p.Cys314= | |
| XM_011521290.1:c.942C>T | XP_011519592.1:p.Cys314= | |
| XM_005254202.3:c.1041C>T | XP_005254259.1:p.Cys347= | |
| XM_011521289.3:c.942C>T | XP_011519591.1:p.Cys314= | |
| NM_152594.3:c.1005C>T MANE Select | NP_689807.1:p.Cys335= |