gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99106216 (EAS)
Genomes Max Group AF
0.97688766 (EAS)
Exomes Max Group AF
0.99038669 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.104313402A>T , CM000674.2:g.104313402A>T | GRCh38 |
| NC_000012.11:g.104707180A>T , CM000674.1:g.104707180A>T | GRCh37 |
| NC_000012.10:g.103231310A>T | NCBI36 |
| NG_029392.1:g.102622A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526950.2:c.505+85A>T | ENSP00000432812.2:n.505+85A>T | |
| ENST00000525566.6:c.610+85A>T MANE Select | ENSP00000434516.1:n.610+85A>T | |
| ENST00000354940.10:c.160+85A>T | ENSP00000347020.7:n.160+85A>T | |
| ENST00000388854.7:c.310+85A>T | ENSP00000373506.4:n.310+85A>T | |
| ENST00000397736.6:c.46+85A>T | ENSP00000380844.3:n.46+85A>T | |
| ENST00000429002.6:c.610+85A>T | ENSP00000412045.4:n.610+85A>T | |
| ENST00000503506.6:c.160+85A>T | ENSP00000421934.2:n.160+85A>T | |
| ENST00000524698.5:c.160+85A>T | ENSP00000433425.1:n.160+85A>T | |
| ENST00000525566.5:c.610+85A>T | ENSP00000434516.1:n.610+85A>T | |
| ENST00000526266.5:c.160+85A>T | ENSP00000431294.1:n.160+85A>T | |
| ENST00000526390.5:c.292+85A>T | ENSP00000435123.1:n.292+85A>T | |
| ENST00000526580.5:c.160+85A>T | ENSP00000433887.1:n.160+85A>T | |
| ENST00000526691.5:c.316+85A>T | ENSP00000435929.1:n.316+85A>T | |
| ENST00000526950.1:c.367+85A>T | ENSP00000432812.1:n.367+85A>T | |
| ENST00000527335.5:c.160+85A>T | ENSP00000433599.1:n.160+85A>T | |
| ENST00000527688.5:c.160+85A>T | ENSP00000433935.1:n.160+85A>T | |
| ENST00000529546.5:c.46+85A>T | ENSP00000434919.1:n.46+85A>T | |
| ENST00000529751.1:c.-96-11935A>T | ENSP00000432273.1:n.-96-11935A>T | |
| ENST00000531689.5:c.160+85A>T | ENSP00000433507.1:n.160+85A>T | |
| ENST00000531691.5:c.292+85A>T | ENSP00000431925.1:n.292+85A>T | |
| NM_001093771.2:c.610+85A>T | NP_001087240.1:n.610+85A>T | |
| NM_001261445.1:c.310+85A>T | NP_001248374.1:n.310+85A>T | |
| NM_001261446.1:c.46+85A>T | NP_001248375.1:n.46+85A>T | |
| NM_003330.3:c.316+85A>T | NP_003321.3:n.316+85A>T | |
| NM_182729.2:c.160+85A>T | NP_877393.1:n.160+85A>T | |
| NM_182742.2:c.160+85A>T | NP_877419.1:n.160+85A>T | |
| NM_182743.2:c.160+85A>T | NP_877420.1:n.160+85A>T | |
| NM_001093771.3:c.610+85A>T MANE Select | NP_001087240.1:n.610+85A>T | |
| NM_001261445.2:c.310+85A>T | NP_001248374.1:n.310+85A>T | |
| NM_001261446.2:c.46+85A>T | NP_001248375.1:n.46+85A>T | |
| NM_003330.4:c.316+85A>T | NP_003321.3:n.316+85A>T | |
| NM_182729.3:c.160+85A>T | NP_877393.1:n.160+85A>T | |
| NM_182742.3:c.160+85A>T | NP_877419.1:n.160+85A>T | |
| NM_182743.3:c.160+85A>T | NP_877420.1:n.160+85A>T |