gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00424481 (EAS)
Genomes Max Group AF
0.00240095 (EAS)
Exomes Max Group AF
0.00434786 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54629679C>T , CM000670.2:g.54629679C>T | GRCh38 |
| NC_000008.10:g.55542239C>T , CM000670.1:g.55542239C>T | GRCh37 |
| NC_000008.9:g.55704792C>T | NCBI36 |
| NG_009840.1:g.18613C>T | |
| NG_009840.2:g.18613C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220676.2:c.5797C>T MANE Select | ENSP00000220676.1:p.Arg1933Ter | |
| ENST00000636932.1:c.787+7391C>T | ENSP00000489857.1:n.787+7391C>T | |
| ENST00000637698.1:c.787+7391C>T | ENSP00000490104.1:n.787+7391C>T | |
| ENST00000220676.1:c.5797C>T | ENSP00000220676.1:p.Arg1933Ter | |
| NM_006269.1:c.5797C>T | NP_006260.1:p.Arg1933Ter | |
| XM_017013721.1:c.5818C>T | XP_016869210.1:p.Arg1940Ter | |
| XM_017013722.1:c.5797C>T | XP_016869211.1:p.Arg1933Ter | |
| NM_001375654.1:c.787+7391C>T | NP_001362583.1:n.787+7391C>T | |
| NM_006269.2:c.5797C>T MANE Select | NP_006260.1:p.Arg1933Ter |