gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09286747 (SAS)
Genomes Max Group AF
0.08065922 (SAS)
Exomes Max Group AF
0.09320919 (SAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43119646C>T , CM000672.2:g.43119646C>T | GRCh38 |
| NC_000010.10:g.43615094C>T , CM000672.1:g.43615094C>T | GRCh37 |
| NC_000010.9:g.42935100C>T | NCBI36 |
| NG_007489.1:g.47578C>T , LRG_518:g.47578C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2112C>T | ENSP00000480088.2:p.Ser704= | |
| ENST00000683007.1:n.2082C>T | ||
| ENST00000683872.1:n.2073C>T | ||
| ENST00000340058.6:c.2508C>T | ENSP00000344798.4:p.Ser836= | |
| ENST00000355710.8:c.2508C>T MANE Select | ENSP00000347942.3:p.Ser836= | |
| ENST00000671844.1:c.*1102C>T | ENSP00000500541.1:n.*1102C>T | |
| ENST00000672389.1:c.*1102C>T | ENSP00000500252.1:n.*1102C>T | |
| ENST00000340058.5:c.2508C>T | ENSP00000344798.4:p.Ser836= | |
| ENST00000355710.7:c.2508C>T | ENSP00000347942.3:p.Ser836= | |
| ENST00000615310.4:c.1290-56C>T | ENSP00000480088.1:n.1290-56C>T | |
| NM_020630.4:c.2508C>T , LRG_518t2:c.2508C>T | NP_065681.1:p.Ser836= | |
| NM_020975.4:c.2508C>T , LRG_518t1:c.2508C>T | NP_066124.1:p.Ser836= | |
| XM_011540027.1:c.2508C>T | XP_011538329.1:p.Ser836= | |
| NM_001355216.1:c.1746C>T | NP_001342145.1:p.Ser582= | |
| NM_020630.5:c.2508C>T | NP_065681.1:p.Ser836= | |
| NM_020975.5:c.2508C>T | NP_066124.1:p.Ser836= | |
| NM_020975.6:c.2508C>T MANE Select | NP_066124.1:p.Ser836= | |
| NM_020630.6:c.2508C>T | NP_065681.1:p.Ser836= |