ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00025945 (EAS)
Genomes Max Group AF
0.00006901 (EAS)
Exomes Max Group AF
0.00025308 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108317507T>C , CM000673.2:g.108317507T>C | GRCh38 |
| NC_000011.9:g.108188234T>C , CM000673.1:g.108188234T>C | GRCh37 |
| NC_000011.8:g.107693444T>C | NCBI36 |
| NG_009830.1:g.99676T>C , LRG_135:g.99676T>C | |
| NG_054724.1:g.157326A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.6333T>C (ATM) | ENSP00000388058.2:p.His2111= | |
| ENST00000713593.1:c.*5804T>C (ATM) | ENSP00000518889.1:n.*5804T>C | |
| ENST00000278616.9:c.6333T>C (ATM) | ENSP00000278616.4:p.His2111= | |
| ENST00000525056.2:n.752T>C (ATM) | ||
| ENST00000682286.1:n.1090T>C (ATM) | ||
| ENST00000682302.1:n.751T>C (ATM) | ||
| ENST00000683174.1:n.7817T>C (ATM) | ||
| ENST00000683524.1:n.1557T>C (ATM) | ||
| ENST00000684152.1:n.2047T>C (ATM) | ||
| ENST00000527805.6:c.*1397T>C (ATM) | ENSP00000435747.2:n.*1397T>C | |
| ENST00000675595.1:c.*1397T>C (ATM) | ENSP00000502563.1:n.*1397T>C | |
| ENST00000675843.1:c.6333T>C (ATM) MANE Select | ENSP00000501606.1:p.His2111= | |
| ENST00000278616.8:c.6333T>C (ATM) | ENSP00000278616.4:p.His2111= | |
| ENST00000452508.6:c.6333T>C (ATM) | ENSP00000388058.2:p.His2111= | |
| ENST00000524792.5:n.2548T>C (ATM) | ||
| ENST00000525729.5:c.641-8436A>G (C11orf65) | ENSP00000433395.1:n.641-8436A>G | |
| ENST00000533690.5:n.1737T>C (ATM) | ||
| NM_000051.3:c.6333T>C , LRG_135t1:c.6333T>C (ATM) | NP_000042.3:p.His2111= | |
| XM_005271561.3:c.6333T>C (ATM) | XP_005271618.2:p.His2111= | |
| XM_005271562.3:c.6333T>C (ATM) | XP_005271619.2:p.His2111= | |
| XM_006718843.2:c.6333T>C (ATM) | XP_006718906.1:p.His2111= | |
| XM_006718845.1:c.2289T>C (ATM) | XP_006718908.1:p.His763= | |
| XM_011542840.1:c.6333T>C (ATM) | XP_011541142.1:p.His2111= | |
| XM_011542841.1:c.6333T>C (ATM) | XP_011541143.1:p.His2111= | |
| XM_011542842.1:c.6168T>C (ATM) | XP_011541144.1:p.His2056= | |
| XM_011542843.1:c.6333T>C (ATM) | XP_011541145.1:p.His2111= | |
| XM_011542844.1:c.5289T>C (ATM) | XP_011541146.1:p.His1763= | |
| XM_011542845.1:c.5025T>C (ATM) | XP_011541147.1:p.His1675= | |
| XM_011542847.1:c.1404T>C (ATM) | XP_011541149.1:p.His468= | |
| NM_001330368.1:c.641-8436A>G (C11orf65) | NP_001317297.1:n.641-8436A>G | |
| NM_001351110.1:c.*39-8436A>G (C11orf65) | NP_001338039.1:n.*39-8436A>G | |
| NM_001351834.1:c.6333T>C (ATM) | NP_001338763.1:p.His2111= | |
| XM_005271562.5:c.6333T>C (ATM) | XP_005271619.2:p.His2111= | |
| XM_006718843.4:c.6333T>C (ATM) | XP_006718906.1:p.His2111= | |
| XM_006718845.2:c.2289T>C (ATM) | XP_006718908.1:p.His763= | |
| XM_011542840.3:c.6333T>C (ATM) | XP_011541142.1:p.His2111= | |
| XM_011542842.3:c.6168T>C (ATM) | XP_011541144.1:p.His2056= | |
| XM_011542843.2:c.6333T>C (ATM) | XP_011541145.1:p.His2111= | |
| XM_011542844.3:c.5289T>C (ATM) | XP_011541146.1:p.His1763= | |
| XM_011542845.2:c.5025T>C (ATM) | XP_011541147.1:p.His1675= | |
| XM_017017789.2:c.6333T>C (ATM) | XP_016873278.1:p.His2111= | |
| XM_017017790.2:c.6333T>C (ATM) | XP_016873279.1:p.His2111= | |
| XM_017017791.1:c.6333T>C (ATM) | XP_016873280.1:p.His2111= | |
| NM_001330368.2:c.641-8436A>G (C11orf65) | NP_001317297.1:n.641-8436A>G | |
| NM_001351110.2:c.*39-8436A>G (C11orf65) | NP_001338039.1:n.*39-8436A>G | |
| NM_001351834.2:c.6333T>C (ATM) | NP_001338763.1:p.His2111= | |
| NM_000051.4:c.6333T>C (ATM) MANE Select | NP_000042.3:p.His2111= |