Linked Data
ClinVar Variation Id:
236787
dbSNP Id:
rs566485657
ExAC:
11:108214071 T / C
gnomAD v2:
11-108214071-T-C
gnomAD v3:
11-108343344-T-C
gnomAD v4:
11-108343344-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108343344T>C , CM000673.2:g.108343344T>C | GRCh38 |
| NC_000011.9:g.108214071T>C , CM000673.1:g.108214071T>C | GRCh37 |
| NC_000011.8:g.107719281T>C | NCBI36 |
| NG_009830.1:g.125513T>C , LRG_135:g.125513T>C | |
| NG_054724.1:g.131489A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.8391T>C (ATM) | ENSP00000388058.2:p.Ser2797= | |
| ENST00000713593.1:c.*7862T>C (ATM) | ENSP00000518889.1:n.*7862T>C | |
| ENST00000278616.9:c.8391T>C (ATM) | ENSP00000278616.4:p.Ser2797= | |
| ENST00000638786.2:n.1089T>C (ATM) | ||
| ENST00000682286.1:n.3148T>C (ATM) | ||
| ENST00000682302.1:n.2809T>C (ATM) | ||
| ENST00000683174.1:n.9875T>C (ATM) | ||
| ENST00000683524.1:n.3615T>C (ATM) | ||
| ENST00000684152.1:n.3807T>C (ATM) | ||
| ENST00000684180.1:n.865T>C (ATM) | ||
| ENST00000684447.1:n.4884T>C (ATM) | ||
| ENST00000527805.6:c.*3455T>C (ATM) | ENSP00000435747.2:n.*3455T>C | |
| ENST00000675595.1:c.*3526T>C (ATM) | ENSP00000502563.1:n.*3526T>C | |
| ENST00000675843.1:c.8391T>C (ATM) MANE Select | ENSP00000501606.1:p.Ser2797= | |
| ENST00000278616.8:c.8391T>C (ATM) | ENSP00000278616.4:p.Ser2797= | |
| ENST00000452508.6:c.8391T>C (ATM) | ENSP00000388058.2:p.Ser2797= | |
| ENST00000524755.5:c.227-8052A>G (C11orf65) | ||
| ENST00000524792.5:n.4606T>C (ATM) | ||
| ENST00000525729.5:c.641-34273A>G (C11orf65) | ENSP00000433395.1:n.641-34273A>G | |
| ENST00000526725.1:n.272-2980A>G (C11orf65) | ||
| ENST00000527531.5:c.*1197-8052A>G (C11orf65) | ENSP00000431706.1:n.*1197-8052A>G | |
| ENST00000615746.4:c.*1197-8052A>G (C11orf65) | ENSP00000483537.1:n.*1197-8052A>G | |
| NM_000051.3:c.8391T>C , LRG_135t1:c.8391T>C (ATM) | NP_000042.3:p.Ser2797= | |
| XM_005271414.3:c.788-8052A>G (C11orf65) | XP_005271471.1:n.788-8052A>G | |
| XM_005271415.3:c.732-8052A>G (C11orf65) | XP_005271472.1:n.732-8052A>G | |
| XM_005271561.3:c.8391T>C (ATM) | XP_005271618.2:p.Ser2797= | |
| XM_005271562.3:c.8391T>C (ATM) | XP_005271619.2:p.Ser2797= | |
| XM_006718843.2:c.8391T>C (ATM) | XP_006718906.1:p.Ser2797= | |
| XM_006718845.1:c.4347T>C (ATM) | XP_006718908.1:p.Ser1449= | |
| XM_011542640.1:c.788-2980A>G (C11orf65) | XP_011540942.1:n.788-2980A>G | |
| XM_011542643.1:c.732-2980A>G (C11orf65) | XP_011540945.1:n.732-2980A>G | |
| XM_011542840.1:c.8391T>C (ATM) | XP_011541142.1:p.Ser2797= | |
| XM_011542841.1:c.8391T>C (ATM) | XP_011541143.1:p.Ser2797= | |
| XM_011542842.1:c.8226T>C (ATM) | XP_011541144.1:p.Ser2742= | |
| XM_011542843.1:c.8391T>C (ATM) | XP_011541145.1:p.Ser2797= | |
| XM_011542844.1:c.7347T>C (ATM) | XP_011541146.1:p.Ser2449= | |
| XM_011542845.1:c.7083T>C (ATM) | XP_011541147.1:p.Ser2361= | |
| XM_011542847.1:c.3462T>C (ATM) | XP_011541149.1:p.Ser1154= | |
| NM_001330368.1:c.641-34273A>G (C11orf65) | NP_001317297.1:n.641-34273A>G | |
| NM_001351110.1:c.695-8052A>G (C11orf65) | NP_001338039.1:n.695-8052A>G | |
| NM_001351834.1:c.8391T>C (ATM) | NP_001338763.1:p.Ser2797= | |
| NR_147053.2:n.2302-8052A>G (C11orf65) | ||
| XM_005271414.4:c.788-8052A>G (C11orf65) | XP_005271471.1:n.788-8052A>G | |
| XM_005271415.4:c.732-8052A>G (C11orf65) | XP_005271472.1:n.732-8052A>G | |
| XM_005271562.5:c.8391T>C (ATM) | XP_005271619.2:p.Ser2797= | |
| XM_006718843.4:c.8391T>C (ATM) | XP_006718906.1:p.Ser2797= | |
| XM_006718845.2:c.4347T>C (ATM) | XP_006718908.1:p.Ser1449= | |
| XM_011542640.2:c.788-2980A>G (C11orf65) | XP_011540942.1:n.788-2980A>G | |
| XM_011542643.2:c.732-2980A>G (C11orf65) | XP_011540945.1:n.732-2980A>G | |
| XM_011542840.3:c.8391T>C (ATM) | XP_011541142.1:p.Ser2797= | |
| XM_011542842.3:c.8226T>C (ATM) | XP_011541144.1:p.Ser2742= | |
| XM_011542843.2:c.8391T>C (ATM) | XP_011541145.1:p.Ser2797= | |
| XM_011542844.3:c.7347T>C (ATM) | XP_011541146.1:p.Ser2449= | |
| XM_011542845.2:c.7083T>C (ATM) | XP_011541147.1:p.Ser2361= | |
| XM_017017247.1:c.904-2980A>G (C11orf65) | XP_016872736.1:n.904-2980A>G | |
| XM_017017789.2:c.8391T>C (ATM) | XP_016873278.1:p.Ser2797= | |
| XM_017017790.2:c.8391T>C (ATM) | XP_016873279.1:p.Ser2797= | |
| NM_001330368.2:c.641-34273A>G (C11orf65) | NP_001317297.1:n.641-34273A>G | |
| NM_001351110.2:c.695-8052A>G (C11orf65) | NP_001338039.1:n.695-8052A>G | |
| NM_001351834.2:c.8391T>C (ATM) | NP_001338763.1:p.Ser2797= | |
| NM_000051.4:c.8391T>C (ATM) MANE Select | NP_000042.3:p.Ser2797= | |
| NR_147053.3:n.2300-8052A>G (C11orf65) |