gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00086707 (EAS)
Genomes Max Group AF
0.00015659 (EAS)
Exomes Max Group AF
0.00091417 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39394564A>G , CM000665.2:g.39394564A>G | GRCh38 |
| NC_000003.11:g.39436055A>G , CM000665.1:g.39436055A>G | GRCh37 |
| NC_000003.10:g.39411059A>G | NCBI36 |
| NG_016931.1:g.16241A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642683.1:c.732A>G | ENSP00000495376.1:p.Thr244= | |
| ENST00000643672.1:c.729A>G | ENSP00000494532.1:p.Thr243= | |
| ENST00000645280.1:c.726A>G | ENSP00000496690.1:p.Thr242= | |
| ENST00000648579.1:c.*77A>G | ENSP00000497638.1:n.*77A>G | |
| ENST00000650617.1:c.780A>G MANE Select | ENSP00000497532.1:p.Thr260= | |
| ENST00000273158.8:c.780A>G | ENSP00000273158.3:p.Thr260= | |
| NM_017875.2:c.780A>G | NP_060345.2:p.Thr260= | |
| XM_006713214.1:c.768A>G | XP_006713277.1:p.Thr256= | |
| XM_011533869.1:c.762A>G | XP_011532171.1:p.Thr254= | |
| XM_011533870.1:c.729A>G | XP_011532172.1:p.Thr243= | |
| XM_011533871.1:c.600A>G | XP_011532173.1:p.Thr200= | |
| NM_001354798.1:c.626-1834A>G | NP_001341727.1:n.626-1834A>G | |
| NM_017875.4:c.780A>G MANE Select | NP_060345.2:p.Thr260= | |
| XM_006713214.2:c.768A>G | XP_006713277.1:p.Thr256= | |
| XM_011533869.2:c.762A>G | XP_011532171.1:p.Thr254= | |
| XM_024453611.1:c.726A>G | XP_024309379.1:p.Thr242= | |
| NM_001354798.2:c.626-1834A>G | NP_001341727.1:n.626-1834A>G |