Linked Data
ClinVar Variation Id:
246421
dbSNP Id:
rs779611511
ExAC:
11:108192129 T / C
gnomAD v2:
11-108192129-T-C
gnomAD v3:
11-108321402-T-C
gnomAD v4:
11-108321402-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108321402T>C , CM000673.2:g.108321402T>C | GRCh38 |
| NC_000011.9:g.108192129T>C , CM000673.1:g.108192129T>C | GRCh37 |
| NC_000011.8:g.107697339T>C | NCBI36 |
| NG_009830.1:g.103571T>C , LRG_135:g.103571T>C | |
| NG_054724.1:g.153431A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.6554T>C (ATM) | ENSP00000388058.2:p.Ile2185Thr | |
| ENST00000713593.1:c.*6025T>C (ATM) | ENSP00000518889.1:n.*6025T>C | |
| ENST00000278616.9:c.6554T>C (ATM) | ENSP00000278616.4:p.Ile2185Thr | |
| ENST00000525056.2:n.973T>C (ATM) | ||
| ENST00000682286.1:n.1311T>C (ATM) | ||
| ENST00000682302.1:n.972T>C (ATM) | ||
| ENST00000683174.1:n.8038T>C (ATM) | ||
| ENST00000683524.1:n.1778T>C (ATM) | ||
| ENST00000684152.1:n.2268T>C (ATM) | ||
| ENST00000527805.6:c.*1618T>C (ATM) | ENSP00000435747.2:n.*1618T>C | |
| ENST00000675595.1:c.*1689T>C (ATM) | ENSP00000502563.1:n.*1689T>C | |
| ENST00000675843.1:c.6554T>C (ATM) MANE Select | ENSP00000501606.1:p.Ile2185Thr | |
| ENST00000278616.8:c.6554T>C (ATM) | ENSP00000278616.4:p.Ile2185Thr | |
| ENST00000452508.6:c.6554T>C (ATM) | ENSP00000388058.2:p.Ile2185Thr | |
| ENST00000524792.5:n.2769T>C (ATM) | ||
| ENST00000525729.5:c.641-12331A>G (C11orf65) | ENSP00000433395.1:n.641-12331A>G | |
| ENST00000533690.5:n.1958T>C (ATM) | ||
| NM_000051.3:c.6554T>C , LRG_135t1:c.6554T>C (ATM) | NP_000042.3:p.Ile2185Thr | |
| XM_005271561.3:c.6554T>C (ATM) | XP_005271618.2:p.Ile2185Thr | |
| XM_005271562.3:c.6554T>C (ATM) | XP_005271619.2:p.Ile2185Thr | |
| XM_006718843.2:c.6554T>C (ATM) | XP_006718906.1:p.Ile2185Thr | |
| XM_006718845.1:c.2510T>C (ATM) | XP_006718908.1:p.Ile837Thr | |
| XM_011542840.1:c.6554T>C (ATM) | XP_011541142.1:p.Ile2185Thr | |
| XM_011542841.1:c.6554T>C (ATM) | XP_011541143.1:p.Ile2185Thr | |
| XM_011542842.1:c.6389T>C (ATM) | XP_011541144.1:p.Ile2130Thr | |
| XM_011542843.1:c.6554T>C (ATM) | XP_011541145.1:p.Ile2185Thr | |
| XM_011542844.1:c.5510T>C (ATM) | XP_011541146.1:p.Ile1837Thr | |
| XM_011542845.1:c.5246T>C (ATM) | XP_011541147.1:p.Ile1749Thr | |
| XM_011542847.1:c.1625T>C (ATM) | XP_011541149.1:p.Ile542Thr | |
| NM_001330368.1:c.641-12331A>G (C11orf65) | NP_001317297.1:n.641-12331A>G | |
| NM_001351110.1:c.*39-12331A>G (C11orf65) | NP_001338039.1:n.*39-12331A>G | |
| NM_001351834.1:c.6554T>C (ATM) | NP_001338763.1:p.Ile2185Thr | |
| XM_005271562.5:c.6554T>C (ATM) | XP_005271619.2:p.Ile2185Thr | |
| XM_006718843.4:c.6554T>C (ATM) | XP_006718906.1:p.Ile2185Thr | |
| XM_006718845.2:c.2510T>C (ATM) | XP_006718908.1:p.Ile837Thr | |
| XM_011542840.3:c.6554T>C (ATM) | XP_011541142.1:p.Ile2185Thr | |
| XM_011542842.3:c.6389T>C (ATM) | XP_011541144.1:p.Ile2130Thr | |
| XM_011542843.2:c.6554T>C (ATM) | XP_011541145.1:p.Ile2185Thr | |
| XM_011542844.3:c.5510T>C (ATM) | XP_011541146.1:p.Ile1837Thr | |
| XM_011542845.2:c.5246T>C (ATM) | XP_011541147.1:p.Ile1749Thr | |
| XM_017017789.2:c.6554T>C (ATM) | XP_016873278.1:p.Ile2185Thr | |
| XM_017017790.2:c.6554T>C (ATM) | XP_016873279.1:p.Ile2185Thr | |
| NM_001330368.2:c.641-12331A>G (C11orf65) | NP_001317297.1:n.641-12331A>G | |
| NM_001351110.2:c.*39-12331A>G (C11orf65) | NP_001338039.1:n.*39-12331A>G | |
| NM_001351834.2:c.6554T>C (ATM) | NP_001338763.1:p.Ile2185Thr | |
| NM_000051.4:c.6554T>C (ATM) MANE Select | NP_000042.3:p.Ile2185Thr |