gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00253234 (EAS)
Genomes Max Group AF
0.00244525 (AFR)
Exomes Max Group AF
0.00267607 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68036339C>T , CM000673.2:g.68036339C>T | GRCh38 |
| NC_000011.9:g.67803806C>T , CM000673.1:g.67803806C>T | GRCh37 |
| NC_000011.8:g.67560382C>T | NCBI36 |
| NG_007878.1:g.2324C>T , LRG_115:g.2324C>T | |
| NG_017040.1:g.10723C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.459C>T MANE Select | ENSP00000315774.5:p.Cys153= | |
| ENST00000313468.9:c.459C>T | ENSP00000315774.5:p.Cys153= | |
| ENST00000524810.5:c.391C>T | ||
| ENST00000525419.5:c.405C>T | ENSP00000433521.1:p.Cys135= | |
| ENST00000526339.5:c.459C>T | ENSP00000436287.1:p.Cys153= | |
| ENST00000526446.5:c.*514C>T | ENSP00000433645.1:n.*514C>T | |
| ENST00000528492.1:c.21C>T | ENSP00000432848.1:p.Cys7= | |
| ENST00000531282.1:n.311C>T | ||
| NM_002496.3:c.459C>T | NP_002487.1:p.Cys153= | |
| XM_005274013.1:c.459C>T | XP_005274070.1:p.Cys153= | |
| XM_005274014.1:c.459C>T | XP_005274071.1:p.Cys153= | |
| XM_005274015.1:c.339C>T | XP_005274072.1:p.Cys113= | |
| XM_011545053.1:c.459C>T | XP_011543355.1:p.Cys153= | |
| NM_002496.4:c.459C>T MANE Select | NP_002487.1:p.Cys153= |