gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00084572 (NFE)
Genomes Max Group AF
0.00039209 (NFE)
Exomes Max Group AF
0.00086601 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226530A>G , CM000681.2:g.1226530A>G | GRCh38 |
| NC_000019.9:g.1226529A>G , CM000681.1:g.1226529A>G | GRCh37 |
| NC_000019.8:g.1177529A>G | NCBI36 |
| NG_007460.2:g.42124A>G , LRG_319:g.42124A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2786A>G | ENSP00000490268.2:n.*2786A>G | |
| ENST00000585748.3:c.813A>G | ENSP00000477641.2:p.Thr271= | |
| ENST00000585851.2:c.1011A>G | ENSP00000467912.2:p.Thr337= | |
| ENST00000326873.12:c.1185A>G MANE Select | ENSP00000324856.6:p.Thr395= | |
| ENST00000326873.11:c.1185A>G | ENSP00000324856.6:p.Thr395= | |
| ENST00000585465.2:n.2918A>G | ||
| ENST00000586243.5:c.1185A>G | ENSP00000467240.2:p.Thr395= | |
| ENST00000589152.5:n.1883A>G | ||
| NM_000455.4:c.1185A>G , LRG_319t1:c.1185A>G | NP_000446.1:p.Thr395= | |
| XM_005259617.1:c.1180A>G | XP_005259674.1:p.Arg394Gly | |
| XM_011528209.1:c.958A>G | XP_011526511.1:p.Arg320Gly | |
| XM_005259617.3:c.1180A>G | XP_005259674.1:p.Arg394Gly | |
| XM_011528209.2:c.958A>G | XP_011526511.1:p.Arg320Gly | |
| XR_001753738.2:n.1991A>G | ||
| XR_001753740.2:n.1961A>G | ||
| NM_000455.5:c.1185A>G MANE Select | NP_000446.1:p.Thr395= |