Linked Data
ClinVar Variation Id:
232481
dbSNP Id:
rs531617441
ExAC:
11:108201135 A / G
gnomAD v2:
11-108201135-A-G
gnomAD v3:
11-108330408-A-G
gnomAD v4:
11-108330408-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108330408A>G , CM000673.2:g.108330408A>G | GRCh38 |
| NC_000011.9:g.108201135A>G , CM000673.1:g.108201135A>G | GRCh37 |
| NC_000011.8:g.107706345A>G | NCBI36 |
| NG_009830.1:g.112577A>G , LRG_135:g.112577A>G | |
| NG_054724.1:g.144425T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.7502A>G (ATM) | ENSP00000388058.2:p.Asn2501Ser | |
| ENST00000713593.1:c.*6973A>G (ATM) | ENSP00000518889.1:n.*6973A>G | |
| ENST00000278616.9:c.7502A>G (ATM) | ENSP00000278616.4:p.Asn2501Ser | |
| ENST00000525056.2:n.1921A>G (ATM) | ||
| ENST00000525537.3:n.459A>G (ATM) | ||
| ENST00000638786.2:n.339A>G (ATM) | ||
| ENST00000682286.1:n.2259A>G (ATM) | ||
| ENST00000682302.1:n.1920A>G (ATM) | ||
| ENST00000683174.1:n.8986A>G (ATM) | ||
| ENST00000683524.1:n.2726A>G (ATM) | ||
| ENST00000684152.1:n.3216A>G (ATM) | ||
| ENST00000684447.1:n.1965A>G (ATM) | ||
| ENST00000527805.6:c.*2566A>G (ATM) | ENSP00000435747.2:n.*2566A>G | |
| ENST00000675595.1:c.*2637A>G (ATM) | ENSP00000502563.1:n.*2637A>G | |
| ENST00000675843.1:c.7502A>G (ATM) MANE Select | ENSP00000501606.1:p.Asn2501Ser | |
| ENST00000278616.8:c.7502A>G (ATM) | ENSP00000278616.4:p.Asn2501Ser | |
| ENST00000452508.6:c.7502A>G (ATM) | ENSP00000388058.2:p.Asn2501Ser | |
| ENST00000524792.5:n.3717A>G (ATM) | ||
| ENST00000525729.5:c.641-21337T>C (C11orf65) | ENSP00000433395.1:n.641-21337T>C | |
| ENST00000533690.5:n.2906A>G (ATM) | ||
| NM_000051.3:c.7502A>G , LRG_135t1:c.7502A>G (ATM) | NP_000042.3:p.Asn2501Ser | |
| XM_005271561.3:c.7502A>G (ATM) | XP_005271618.2:p.Asn2501Ser | |
| XM_005271562.3:c.7502A>G (ATM) | XP_005271619.2:p.Asn2501Ser | |
| XM_006718843.2:c.7502A>G (ATM) | XP_006718906.1:p.Asn2501Ser | |
| XM_006718845.1:c.3458A>G (ATM) | XP_006718908.1:p.Asn1153Ser | |
| XM_011542840.1:c.7502A>G (ATM) | XP_011541142.1:p.Asn2501Ser | |
| XM_011542841.1:c.7502A>G (ATM) | XP_011541143.1:p.Asn2501Ser | |
| XM_011542842.1:c.7337A>G (ATM) | XP_011541144.1:p.Asn2446Ser | |
| XM_011542843.1:c.7502A>G (ATM) | XP_011541145.1:p.Asn2501Ser | |
| XM_011542844.1:c.6458A>G (ATM) | XP_011541146.1:p.Asn2153Ser | |
| XM_011542845.1:c.6194A>G (ATM) | XP_011541147.1:p.Asn2065Ser | |
| XM_011542847.1:c.2573A>G (ATM) | XP_011541149.1:p.Asn858Ser | |
| NM_001330368.1:c.641-21337T>C (C11orf65) | NP_001317297.1:n.641-21337T>C | |
| NM_001351110.1:c.*38+4812T>C (C11orf65) | NP_001338039.1:n.*38+4812T>C | |
| NM_001351834.1:c.7502A>G (ATM) | NP_001338763.1:p.Asn2501Ser | |
| XM_005271562.5:c.7502A>G (ATM) | XP_005271619.2:p.Asn2501Ser | |
| XM_006718843.4:c.7502A>G (ATM) | XP_006718906.1:p.Asn2501Ser | |
| XM_006718845.2:c.3458A>G (ATM) | XP_006718908.1:p.Asn1153Ser | |
| XM_011542840.3:c.7502A>G (ATM) | XP_011541142.1:p.Asn2501Ser | |
| XM_011542842.3:c.7337A>G (ATM) | XP_011541144.1:p.Asn2446Ser | |
| XM_011542843.2:c.7502A>G (ATM) | XP_011541145.1:p.Asn2501Ser | |
| XM_011542844.3:c.6458A>G (ATM) | XP_011541146.1:p.Asn2153Ser | |
| XM_011542845.2:c.6194A>G (ATM) | XP_011541147.1:p.Asn2065Ser | |
| XM_017017789.2:c.7502A>G (ATM) | XP_016873278.1:p.Asn2501Ser | |
| XM_017017790.2:c.7502A>G (ATM) | XP_016873279.1:p.Asn2501Ser | |
| NM_001330368.2:c.641-21337T>C (C11orf65) | NP_001317297.1:n.641-21337T>C | |
| NM_001351110.2:c.*38+4812T>C (C11orf65) | NP_001338039.1:n.*38+4812T>C | |
| NM_001351834.2:c.7502A>G (ATM) | NP_001338763.1:p.Asn2501Ser | |
| NM_000051.4:c.7502A>G (ATM) MANE Select | NP_000042.3:p.Asn2501Ser |