gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001241 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.0000103 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40007064C>T , CM000677.2:g.40007064C>T | GRCh38 |
| NC_000015.9:g.40299265C>T , CM000677.1:g.40299265C>T | GRCh37 |
| NC_000015.8:g.38086557C>T | NCBI36 |
| NG_034053.1:g.77941C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263791.10:c.3406C>T MANE Select | ENSP00000263791.5:p.Arg1136Ter | |
| ENST00000263791.9:c.3406C>T | ENSP00000263791.5:p.Arg1136Ter | |
| ENST00000558557.1:n.569C>T | ||
| ENST00000558629.5:n.2323C>T | ||
| ENST00000559311.5:n.367C>T | ||
| ENST00000560855.5:c.2738C>T | ||
| NM_001013703.3:c.3406C>T | NP_001013725.2:p.Arg1136Ter | |
| XM_005254392.1:c.3406C>T | XP_005254449.1:p.Arg1136Ter | |
| XM_011521599.1:c.3406C>T | XP_011519901.1:p.Arg1136Ter | |
| XM_011521600.1:c.3406C>T | XP_011519902.1:p.Arg1136Ter | |
| XM_005254392.3:c.3406C>T | XP_005254449.1:p.Arg1136Ter | |
| XM_011521599.2:c.3406C>T | XP_011519901.1:p.Arg1136Ter | |
| XM_011521600.3:c.3406C>T | XP_011519902.1:p.Arg1136Ter | |
| XM_017022219.2:c.3406C>T | XP_016877708.1:p.Arg1136Ter | |
| NM_001013703.4:c.3406C>T MANE Select | NP_001013725.2:p.Arg1136Ter |