Linked Data
ClinVar Variation Id:
485171
dbSNP Id:
rs748380897
ExAC:
11:108186735 T / C
gnomAD v2:
11-108186735-T-C
gnomAD v4:
11-108316008-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108316008T>C , CM000673.2:g.108316008T>C | GRCh38 |
| NC_000011.9:g.108186735T>C , CM000673.1:g.108186735T>C | GRCh37 |
| NC_000011.8:g.107691945T>C | NCBI36 |
| NG_009830.1:g.98177T>C , LRG_135:g.98177T>C | |
| NG_054724.1:g.158825A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.6096-3T>C (ATM) | ENSP00000388058.2:n.6096-3T>C | |
| ENST00000713593.1:c.*5567-3T>C (ATM) | ENSP00000518889.1:n.*5567-3T>C | |
| ENST00000278616.9:c.6096-3T>C (ATM) | ENSP00000278616.4:n.6096-3T>C | |
| ENST00000525056.2:n.515-3T>C (ATM) | ||
| ENST00000682286.1:n.853-3T>C (ATM) | ||
| ENST00000682302.1:n.514-3T>C (ATM) | ||
| ENST00000683174.1:n.7580-3T>C (ATM) | ||
| ENST00000683524.1:n.1320-3T>C (ATM) | ||
| ENST00000684152.1:n.1810-3T>C (ATM) | ||
| ENST00000527805.6:c.*1160-3T>C (ATM) | ENSP00000435747.2:n.*1160-3T>C | |
| ENST00000675595.1:c.*1160-3T>C (ATM) | ENSP00000502563.1:n.*1160-3T>C | |
| ENST00000675843.1:c.6096-3T>C (ATM) MANE Select | ENSP00000501606.1:n.6096-3T>C | |
| ENST00000278616.8:c.6096-3T>C (ATM) | ENSP00000278616.4:n.6096-3T>C | |
| ENST00000452508.6:c.6096-3T>C (ATM) | ENSP00000388058.2:n.6096-3T>C | |
| ENST00000524792.5:n.2311-3T>C (ATM) | ||
| ENST00000525729.5:c.641-6937A>G (C11orf65) | ENSP00000433395.1:n.641-6937A>G | |
| ENST00000532765.1:n.413-3T>C (ATM) | ||
| ENST00000533690.5:n.1500-3T>C (ATM) | ||
| NM_000051.3:c.6096-3T>C , LRG_135t1:c.6096-3T>C (ATM) | NP_000042.3:n.6096-3T>C | |
| XM_005271561.3:c.6096-3T>C (ATM) | XP_005271618.2:n.6096-3T>C | |
| XM_005271562.3:c.6096-3T>C (ATM) | XP_005271619.2:n.6096-3T>C | |
| XM_006718843.2:c.6096-3T>C (ATM) | XP_006718906.1:n.6096-3T>C | |
| XM_006718845.1:c.2052-3T>C (ATM) | XP_006718908.1:n.2052-3T>C | |
| XM_011542840.1:c.6096-3T>C (ATM) | XP_011541142.1:n.6096-3T>C | |
| XM_011542841.1:c.6096-3T>C (ATM) | XP_011541143.1:n.6096-3T>C | |
| XM_011542842.1:c.5931-3T>C (ATM) | XP_011541144.1:n.5931-3T>C | |
| XM_011542843.1:c.6096-3T>C (ATM) | XP_011541145.1:n.6096-3T>C | |
| XM_011542844.1:c.5052-3T>C (ATM) | XP_011541146.1:n.5052-3T>C | |
| XM_011542845.1:c.4788-3T>C (ATM) | XP_011541147.1:n.4788-3T>C | |
| XM_011542847.1:c.1167-3T>C (ATM) | XP_011541149.1:n.1167-3T>C | |
| NM_001330368.1:c.641-6937A>G (C11orf65) | NP_001317297.1:n.641-6937A>G | |
| NM_001351110.1:c.*39-6937A>G (C11orf65) | NP_001338039.1:n.*39-6937A>G | |
| NM_001351834.1:c.6096-3T>C (ATM) | NP_001338763.1:n.6096-3T>C | |
| XM_005271562.5:c.6096-3T>C (ATM) | XP_005271619.2:n.6096-3T>C | |
| XM_006718843.4:c.6096-3T>C (ATM) | XP_006718906.1:n.6096-3T>C | |
| XM_006718845.2:c.2052-3T>C (ATM) | XP_006718908.1:n.2052-3T>C | |
| XM_011542840.3:c.6096-3T>C (ATM) | XP_011541142.1:n.6096-3T>C | |
| XM_011542842.3:c.5931-3T>C (ATM) | XP_011541144.1:n.5931-3T>C | |
| XM_011542843.2:c.6096-3T>C (ATM) | XP_011541145.1:n.6096-3T>C | |
| XM_011542844.3:c.5052-3T>C (ATM) | XP_011541146.1:n.5052-3T>C | |
| XM_011542845.2:c.4788-3T>C (ATM) | XP_011541147.1:n.4788-3T>C | |
| XM_017017789.2:c.6096-3T>C (ATM) | XP_016873278.1:n.6096-3T>C | |
| XM_017017790.2:c.6096-3T>C (ATM) | XP_016873279.1:n.6096-3T>C | |
| XM_017017791.1:c.6096-3T>C (ATM) | XP_016873280.1:n.6096-3T>C | |
| NM_001330368.2:c.641-6937A>G (C11orf65) | NP_001317297.1:n.641-6937A>G | |
| NM_001351110.2:c.*39-6937A>G (C11orf65) | NP_001338039.1:n.*39-6937A>G | |
| NM_001351834.2:c.6096-3T>C (ATM) | NP_001338763.1:n.6096-3T>C | |
| NM_000051.4:c.6096-3T>C (ATM) MANE Select | NP_000042.3:n.6096-3T>C |