gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001884 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00001664 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2406785G>A , CM000663.2:g.2406785G>A | GRCh38 |
| NC_000001.10:g.2338224G>A , CM000663.1:g.2338224G>A | GRCh37 |
| NC_000001.9:g.2328084G>A | NCBI36 |
| NG_008342.1:g.10787C>T | |
| NG_016128.1:g.20011G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.771C>T | ENSP00000288774.3:p.Tyr257= | |
| ENST00000447513.7:c.711C>T MANE Select | ENSP00000407922.2:p.Tyr237= | |
| ENST00000650293.1:c.665C>T | ||
| ENST00000288774.7:c.771C>T | ENSP00000288774.3:p.Tyr257= | |
| ENST00000447513.6:c.711C>T | ENSP00000407922.2:p.Tyr237= | |
| ENST00000507596.5:c.711C>T | ENSP00000424291.1:p.Tyr237= | |
| ENST00000510434.1:c.*77C>T | ENSP00000423051.1:n.*77C>T | |
| NM_002617.3:c.711C>T | NP_002608.1:p.Tyr237= | |
| NM_153818.1:c.771C>T | NP_722540.1:p.Tyr257= | |
| XM_011541573.1:c.768C>T | XP_011539875.1:p.Tyr256= | |
| XM_011541574.1:c.336C>T | XP_011539876.1:p.Tyr112= | |
| XM_011541575.1:c.336C>T | XP_011539877.1:p.Tyr112= | |
| XR_946666.1:n.827C>T | ||
| XR_946666.2:n.776C>T | ||
| NM_001374425.1:c.768C>T | NP_001361354.1:p.Tyr256= | |
| NM_001374426.1:c.336C>T | NP_001361355.1:p.Tyr112= | |
| NM_001374427.1:c.279C>T | NP_001361356.1:p.Tyr93= | |
| NM_002617.4:c.711C>T MANE Select | NP_002608.1:p.Tyr237= | |
| NM_153818.2:c.771C>T | NP_722540.1:p.Tyr257= | |
| NR_164636.1:n.826C>T |