gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000441 (NFE)
Exomes Max Group AF
0.00000393 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49614274A>T , CM000672.2:g.49614274A>T | GRCh38 |
| NC_000010.10:g.50822320A>T , CM000672.1:g.50822320A>T | GRCh37 |
| NC_000010.9:g.50492326A>T | NCBI36 |
| NG_011797.1:g.10180A>T | |
| NG_053144.1:g.8974A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337653.7:c.85A>T MANE Select | ENSP00000337103.2:p.Arg29Ter | |
| ENST00000337653.6:c.85A>T | ENSP00000337103.2:p.Arg29Ter | |
| ENST00000339797.5:c.-68-2228A>T | ENSP00000343486.1:n.-68-2228A>T | |
| ENST00000351556.7:c.-240-30A>T | ENSP00000345878.3:n.-240-30A>T | |
| ENST00000395559.6:c.-69+1072A>T | ENSP00000378926.2:n.-69+1072A>T | |
| ENST00000395562.2:c.-232A>T | ENSP00000378929.2:n.-232A>T | |
| ENST00000460699.5:n.96-30A>T | ||
| ENST00000466590.6:c.85A>T | ENSP00000473443.1:p.Arg29Ter | |
| ENST00000481336.5:n.84+1072A>T | ||
| NM_001142929.1:c.-270A>T | NP_001136401.1:n.-270A>T | |
| NM_001142933.1:c.-232A>T | NP_001136405.1:n.-232A>T | |
| NM_001142934.1:c.-340A>T | NP_001136406.1:n.-340A>T | |
| NM_020549.4:c.85A>T | NP_065574.3:p.Arg29Ter | |
| NM_020984.3:c.-68-2228A>T | NP_066264.3:n.-68-2228A>T | |
| NM_020985.3:c.-240-30A>T | NP_066265.3:n.-240-30A>T | |
| NM_020986.3:c.-69+1072A>T | NP_066266.3:n.-69+1072A>T | |
| NM_001142929.2:c.-270A>T | NP_001136401.2:n.-270A>T | |
| NM_001142933.2:c.-232A>T | NP_001136405.2:n.-232A>T | |
| NM_001142934.2:c.-340A>T | NP_001136406.2:n.-340A>T | |
| NM_020549.5:c.85A>T MANE Select | NP_065574.4:p.Arg29Ter | |
| NM_020984.4:c.-68-2228A>T | NP_066264.4:n.-68-2228A>T | |
| NM_020985.4:c.-240-30A>T | NP_066265.4:n.-240-30A>T | |
| NM_020986.4:c.-69+1072A>T | NP_066266.4:n.-69+1072A>T |