gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00040089 (NFE)
Genomes Max Group AF
0.00025539 (NFE)
Exomes Max Group AF
0.00040382 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169542222A>G , CM000663.2:g.169542222A>G | GRCh38 |
| NC_000001.10:g.169511460A>G , CM000663.1:g.169511460A>G | GRCh37 |
| NC_000001.9:g.167778084A>G | NCBI36 |
| NG_011806.1:g.49310T>C , LRG_553:g.49310T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.2868T>C MANE Select | ENSP00000356771.3:p.Tyr956= | |
| ENST00000367796.3:c.2883T>C | ENSP00000356770.3:p.Tyr961= | |
| ENST00000367797.7:c.2868T>C | ENSP00000356771.3:p.Tyr956= | |
| NM_000130.4:c.2868T>C , LRG_553t1:c.2868T>C | NP_000121.2:p.Tyr956= | |
| XM_017000660.2:c.2457T>C | XP_016856149.1:p.Tyr819= | |
| NM_000130.5:c.2868T>C MANE Select | NP_000121.2:p.Tyr956= |