gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01247625 (SAS)
Genomes Max Group AF
0.00918714 (SAS)
Exomes Max Group AF
0.01254004 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197090994A>G , CM000663.2:g.197090994A>G | GRCh38 |
| NC_000001.10:g.197060124A>G , CM000663.1:g.197060124A>G | GRCh37 |
| NC_000001.9:g.195326747A>G | NCBI36 |
| NG_015867.1:g.60701T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2779T>C | ||
| ENST00000367409.9:c.9492T>C MANE Select | ENSP00000356379.4:p.Tyr3164= | |
| ENST00000680265.1:c.9714T>C | ENSP00000505384.1:p.Tyr3238= | |
| ENST00000680710.1:c.9468T>C | ENSP00000506676.1:p.Tyr3156= | |
| ENST00000294732.11:c.4737T>C | ENSP00000294732.7:p.Tyr1579= | |
| ENST00000367408.5:c.2487T>C | ENSP00000356378.1:p.Tyr829= | |
| ENST00000367409.8:c.9492T>C | ENSP00000356379.4:p.Tyr3164= | |
| ENST00000612785.1:c.3450T>C | ENSP00000479244.1:p.Tyr1150= | |
| NM_001206846.1:c.4737T>C | NP_001193775.1:p.Tyr1579= | |
| NM_018136.4:c.9492T>C | NP_060606.3:p.Tyr3164= | |
| NM_018136.5:c.9492T>C MANE Select | NP_060606.3:p.Tyr3164= | |
| NM_001206846.2:c.4737T>C | NP_001193775.1:p.Tyr1579= |