gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00032718 (NFE)
Genomes Max Group AF
0.00017078 (NFE)
Exomes Max Group AF
0.00033202 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169530870G>A , CM000663.2:g.169530870G>A | GRCh38 |
| NC_000001.10:g.169500108G>A , CM000663.1:g.169500108G>A | GRCh37 |
| NC_000001.9:g.167766732G>A | NCBI36 |
| NG_011806.1:g.60662C>T , LRG_553:g.60662C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.5124C>T MANE Select | ENSP00000356771.3:p.Tyr1708= | |
| ENST00000367796.3:c.5139C>T | ENSP00000356770.3:p.Tyr1713= | |
| ENST00000367797.7:c.5124C>T | ENSP00000356771.3:p.Tyr1708= | |
| NM_000130.4:c.5124C>T , LRG_553t1:c.5124C>T | NP_000121.2:p.Tyr1708= | |
| XM_017000660.2:c.4713C>T | XP_016856149.1:p.Tyr1571= | |
| NM_000130.5:c.5124C>T MANE Select | NP_000121.2:p.Tyr1708= |