gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016598 (NFE)
Genomes Max Group AF
0.00009047 (NFE)
Exomes Max Group AF
0.00016668 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235702900G>A , CM000663.2:g.235702900G>A | GRCh38 |
| NC_000001.10:g.235866200G>A , CM000663.1:g.235866200G>A | GRCh37 |
| NC_000001.9:g.233932823G>A | NCBI36 |
| NG_007397.1:g.185741C>T , LRG_143:g.185741C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462376.2:n.1631C>T | ||
| ENST00000697178.1:c.*5916C>T | ENSP00000513163.1:n.*5916C>T | |
| ENST00000697179.1:n.2930C>T | ||
| ENST00000697235.1:c.771C>T | ENSP00000513202.1:p.Tyr257= | |
| ENST00000697236.1:c.3685C>T | ENSP00000513203.1:n.3685C>T | |
| ENST00000697237.1:c.932C>T | ||
| ENST00000697240.1:c.2355C>T | ENSP00000513205.1:p.Tyr785= | |
| ENST00000389793.7:c.10221C>T MANE Select | ENSP00000374443.2:p.Tyr3407= | |
| ENST00000389793.6:c.10221C>T | ENSP00000374443.2:p.Tyr3407= | |
| ENST00000389794.7:c.*5645C>T | ENSP00000374444.4:n.*5645C>T | |
| ENST00000473037.5:n.5211C>T | ||
| NM_000081.3:c.10221C>T , LRG_143t1:c.10221C>T | NP_000072.2:p.Tyr3407= | |
| NM_001301365.1:c.10221C>T , LRG_143t2:c.10221C>T | NP_001288294.1:p.Tyr3407= | |
| XM_011544031.1:c.10383C>T | XP_011542333.1:p.Tyr3461= | |
| XM_011544032.1:c.10383C>T | XP_011542334.1:p.Tyr3461= | |
| XM_011544033.1:c.10383C>T | XP_011542335.1:p.Tyr3461= | |
| XM_011544034.1:c.10245C>T | XP_011542336.1:p.Tyr3415= | |
| XM_011544036.1:c.8046C>T | XP_011542338.1:p.Tyr2682= | |
| XM_011544033.2:c.10383C>T | XP_011542335.1:p.Tyr3461= | |
| XM_011544036.2:c.8046C>T | XP_011542338.1:p.Tyr2682= | |
| XM_017000150.1:c.10306-5628C>T | XP_016855639.1:n.10306-5628C>T | |
| NM_000081.4:c.10221C>T MANE Select | NP_000072.2:p.Tyr3407= |