gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0010428 (NFE)
Genomes Max Group AF
0.0007028 (NFE)
Exomes Max Group AF
0.00105358 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.1844466G>T , CM000674.2:g.1844466G>T | GRCh38 |
| NC_000012.11:g.1953632G>T , CM000674.1:g.1953632G>T | GRCh37 |
| NC_000012.10:g.1823893G>T | NCBI36 |
| NG_012663.1:g.79239C>A | |
| NG_012663.2:g.79239C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382722.10:c.2406C>A MANE Select | ENSP00000372169.4:p.Tyr802Ter | |
| ENST00000280663.12:n.2599C>A | ||
| ENST00000382722.9:c.2406C>A | ENSP00000372169.4:p.Tyr802Ter | |
| ENST00000444595.6:c.*652C>A | ENSP00000403371.2:n.*652C>A | |
| ENST00000537784.5:c.247C>A | ||
| ENST00000539048.2:n.458C>A | ||
| ENST00000585708.5:c.2214C>A | ENSP00000467697.1:p.Tyr738Ter | |
| ENST00000585732.1:c.1989C>A | ENSP00000468080.1:p.Tyr663Ter | |
| ENST00000586184.5:c.2406C>A | ENSP00000465060.1:p.Tyr802Ter | |
| ENST00000587995.5:c.2331C>A | ENSP00000465372.1:p.Tyr777Ter | |
| ENST00000588077.5:c.2214C>A | ENSP00000468530.1:p.Tyr738Ter | |
| NM_172364.4:c.2406C>A | NP_758952.4:p.Tyr802Ter | |
| XM_011521041.1:c.2343C>A | XP_011519343.1:p.Tyr781Ter | |
| XM_011521041.2:c.2343C>A | XP_011519343.1:p.Tyr781Ter | |
| NM_172364.5:c.2406C>A MANE Select | NP_758952.4:p.Tyr802Ter |