gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00031118 (AMR)
Genomes Max Group AF
0.00026698 (NFE)
Exomes Max Group AF
0.00029792 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226655C>T , CM000681.2:g.1226655C>T | GRCh38 |
| NC_000019.9:g.1226654C>T , CM000681.1:g.1226654C>T | GRCh37 |
| NC_000019.8:g.1177654C>T | NCBI36 |
| NG_007460.2:g.42249C>T , LRG_319:g.42249C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2911C>T | ENSP00000490268.2:n.*2911C>T | |
| ENST00000585748.3:c.*8C>T | ENSP00000477641.2:n.*8C>T | |
| ENST00000585851.2:c.*8C>T | ENSP00000467912.2:n.*8C>T | |
| ENST00000326873.12:c.*8C>T MANE Select | ENSP00000324856.6:n.*8C>T | |
| ENST00000326873.11:c.*8C>T | ENSP00000324856.6:n.*8C>T | |
| ENST00000585465.2:n.3043C>T | ||
| ENST00000586243.5:c.*8C>T | ENSP00000467240.2:n.*8C>T | |
| ENST00000589152.5:n.2008C>T | ||
| NM_000455.4:c.*8C>T , LRG_319t1:c.*8C>T | NP_000446.1:n.*8C>T | |
| XM_005259617.1:c.1305C>T | XP_005259674.1:p.Ala435= | |
| XM_011528209.1:c.1083C>T | XP_011526511.1:p.Ala361= | |
| XM_005259617.3:c.1305C>T | XP_005259674.1:p.Ala435= | |
| XM_011528209.2:c.1083C>T | XP_011526511.1:p.Ala361= | |
| XR_001753738.2:n.2116C>T | ||
| XR_001753740.2:n.2086C>T | ||
| NM_000455.5:c.*8C>T MANE Select | NP_000446.1:n.*8C>T |