Linked Data
ClinVar Variation Id:
186146
dbSNP Id:
rs786202728
gnomAD v2:
11-108181016-G-C
gnomAD v3:
11-108310289-G-C
gnomAD v4:
11-108310289-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108310289G>C , CM000673.2:g.108310289G>C | GRCh38 |
| NC_000011.9:g.108181016G>C , CM000673.1:g.108181016G>C | GRCh37 |
| NC_000011.8:g.107686226G>C | NCBI36 |
| NG_009830.1:g.92458G>C , LRG_135:g.92458G>C | |
| NG_054724.1:g.164544C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.5892G>C (ATM) | ENSP00000388058.2:p.Lys1964Asn | |
| ENST00000713593.1:c.*5363G>C (ATM) | ENSP00000518889.1:n.*5363G>C | |
| ENST00000278616.9:c.5892G>C (ATM) | ENSP00000278616.4:p.Lys1964Asn | |
| ENST00000525056.2:n.311G>C (ATM) | ||
| ENST00000682286.1:n.649G>C (ATM) | ||
| ENST00000682302.1:n.310G>C (ATM) | ||
| ENST00000683174.1:n.7376G>C (ATM) | ||
| ENST00000683524.1:n.1116G>C (ATM) | ||
| ENST00000684152.1:n.1606G>C (ATM) | ||
| ENST00000527805.6:c.*956G>C (ATM) | ENSP00000435747.2:n.*956G>C | |
| ENST00000675595.1:c.*956G>C (ATM) | ENSP00000502563.1:n.*956G>C | |
| ENST00000675843.1:c.5892G>C (ATM) MANE Select | ENSP00000501606.1:p.Lys1964Asn | |
| ENST00000278616.8:c.5892G>C (ATM) | ENSP00000278616.4:p.Lys1964Asn | |
| ENST00000452508.6:c.5892G>C (ATM) | ENSP00000388058.2:p.Lys1964Asn | |
| ENST00000524792.5:n.2107G>C (ATM) | ||
| ENST00000525729.5:c.641-1218C>G (C11orf65) | ENSP00000433395.1:n.641-1218C>G | |
| ENST00000529588.5:c.316G>C (ATM) | ||
| ENST00000532765.1:n.209G>C (ATM) | ||
| ENST00000533690.5:n.1296G>C (ATM) | ||
| NM_000051.3:c.5892G>C , LRG_135t1:c.5892G>C (ATM) | NP_000042.3:p.Lys1964Asn | |
| XM_005271561.3:c.5892G>C (ATM) | XP_005271618.2:p.Lys1964Asn | |
| XM_005271562.3:c.5892G>C (ATM) | XP_005271619.2:p.Lys1964Asn | |
| XM_006718843.2:c.5892G>C (ATM) | XP_006718906.1:p.Lys1964Asn | |
| XM_006718845.1:c.1848G>C (ATM) | XP_006718908.1:p.Lys616Asn | |
| XM_011542840.1:c.5892G>C (ATM) | XP_011541142.1:p.Lys1964Asn | |
| XM_011542841.1:c.5892G>C (ATM) | XP_011541143.1:p.Lys1964Asn | |
| XM_011542842.1:c.5727G>C (ATM) | XP_011541144.1:p.Lys1909Asn | |
| XM_011542843.1:c.5892G>C (ATM) | XP_011541145.1:p.Lys1964Asn | |
| XM_011542844.1:c.4848G>C (ATM) | XP_011541146.1:p.Lys1616Asn | |
| XM_011542845.1:c.4584G>C (ATM) | XP_011541147.1:p.Lys1528Asn | |
| XM_011542847.1:c.963G>C (ATM) | XP_011541149.1:p.Lys321Asn | |
| NM_001330368.1:c.641-1218C>G (C11orf65) | NP_001317297.1:n.641-1218C>G | |
| NM_001351110.1:c.*39-1218C>G (C11orf65) | NP_001338039.1:n.*39-1218C>G | |
| NM_001351834.1:c.5892G>C (ATM) | NP_001338763.1:p.Lys1964Asn | |
| XM_005271562.5:c.5892G>C (ATM) | XP_005271619.2:p.Lys1964Asn | |
| XM_006718843.4:c.5892G>C (ATM) | XP_006718906.1:p.Lys1964Asn | |
| XM_006718845.2:c.1848G>C (ATM) | XP_006718908.1:p.Lys616Asn | |
| XM_011542840.3:c.5892G>C (ATM) | XP_011541142.1:p.Lys1964Asn | |
| XM_011542842.3:c.5727G>C (ATM) | XP_011541144.1:p.Lys1909Asn | |
| XM_011542843.2:c.5892G>C (ATM) | XP_011541145.1:p.Lys1964Asn | |
| XM_011542844.3:c.4848G>C (ATM) | XP_011541146.1:p.Lys1616Asn | |
| XM_011542845.2:c.4584G>C (ATM) | XP_011541147.1:p.Lys1528Asn | |
| XM_017017789.2:c.5892G>C (ATM) | XP_016873278.1:p.Lys1964Asn | |
| XM_017017790.2:c.5892G>C (ATM) | XP_016873279.1:p.Lys1964Asn | |
| XM_017017791.1:c.5892G>C (ATM) | XP_016873280.1:p.Lys1964Asn | |
| XR_002957150.1:n.6492G>C (ATM) | ||
| NM_001330368.2:c.641-1218C>G (C11orf65) | NP_001317297.1:n.641-1218C>G | |
| NM_001351110.2:c.*39-1218C>G (C11orf65) | NP_001338039.1:n.*39-1218C>G | |
| NM_001351834.2:c.5892G>C (ATM) | NP_001338763.1:p.Lys1964Asn | |
| NM_000051.4:c.5892G>C (ATM) MANE Select | NP_000042.3:p.Lys1964Asn |