Linked Data
ClinVar Variation Id:
133635
ClinVar RCV Id:
RCV000120160
RCV000214426
RCV000231221
RCV000656763
RCV002225366
RCV004551180
RCV003315730
dbSNP Id:
rs377648506
ExAC:
11:108204673 T / C
gnomAD v2:
11-108204673-T-C
gnomAD v3:
11-108333946-T-C
gnomAD v4:
11-108333946-T-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108333946T>C , CM000673.2:g.108333946T>C | GRCh38 |
| NC_000011.9:g.108204673T>C , CM000673.1:g.108204673T>C | GRCh37 |
| NC_000011.8:g.107709883T>C | NCBI36 |
| NG_009830.1:g.116115T>C , LRG_135:g.116115T>C | |
| NG_054724.1:g.140887A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.7988T>C (ATM) | ENSP00000388058.2:p.Val2663Ala | |
| ENST00000713593.1:c.*7459T>C (ATM) | ENSP00000518889.1:n.*7459T>C | |
| ENST00000278616.9:c.7988T>C (ATM) | ENSP00000278616.4:p.Val2663Ala | |
| ENST00000525056.2:n.2407T>C (ATM) | ||
| ENST00000638786.2:n.686T>C (ATM) | ||
| ENST00000682286.1:n.2745T>C (ATM) | ||
| ENST00000682302.1:n.2406T>C (ATM) | ||
| ENST00000683174.1:n.9472T>C (ATM) | ||
| ENST00000683524.1:n.3212T>C (ATM) | ||
| ENST00000684152.1:n.3404T>C (ATM) | ||
| ENST00000684180.1:n.462T>C (ATM) | ||
| ENST00000684447.1:n.4481T>C (ATM) | ||
| ENST00000527805.6:c.*3052T>C (ATM) | ENSP00000435747.2:n.*3052T>C | |
| ENST00000675595.1:c.*3123T>C (ATM) | ENSP00000502563.1:n.*3123T>C | |
| ENST00000675843.1:c.7988T>C (ATM) MANE Select | ENSP00000501606.1:p.Val2663Ala | |
| ENST00000278616.8:c.7988T>C (ATM) | ENSP00000278616.4:p.Val2663Ala | |
| ENST00000452508.6:c.7988T>C (ATM) | ENSP00000388058.2:p.Val2663Ala | |
| ENST00000524755.5:c.299+1274A>G (C11orf65) | ||
| ENST00000524792.5:n.4203T>C (ATM) | ||
| ENST00000525056.1:n.185T>C (ATM) | ||
| ENST00000525729.5:c.641-24875A>G (C11orf65) | ENSP00000433395.1:n.641-24875A>G | |
| ENST00000527531.5:c.*1269+1274A>G (C11orf65) | ENSP00000431706.1:n.*1269+1274A>G | |
| ENST00000533979.5:n.200T>C (ATM) | ||
| ENST00000615746.4:c.*1269+1274A>G (C11orf65) | ENSP00000483537.1:n.*1269+1274A>G | |
| NM_000051.3:c.7988T>C , LRG_135t1:c.7988T>C (ATM) | NP_000042.3:p.Val2663Ala | |
| XM_005271414.3:c.*38+1274A>G (C11orf65) | XP_005271471.1:n.*38+1274A>G | |
| XM_005271415.3:c.804+1274A>G (C11orf65) | XP_005271472.1:n.804+1274A>G | |
| XM_005271561.3:c.7988T>C (ATM) | XP_005271618.2:p.Val2663Ala | |
| XM_005271562.3:c.7988T>C (ATM) | XP_005271619.2:p.Val2663Ala | |
| XM_006718843.2:c.7988T>C (ATM) | XP_006718906.1:p.Val2663Ala | |
| XM_006718845.1:c.3944T>C (ATM) | XP_006718908.1:p.Val1315Ala | |
| XM_011542840.1:c.7988T>C (ATM) | XP_011541142.1:p.Val2663Ala | |
| XM_011542841.1:c.7988T>C (ATM) | XP_011541143.1:p.Val2663Ala | |
| XM_011542842.1:c.7823T>C (ATM) | XP_011541144.1:p.Val2608Ala | |
| XM_011542843.1:c.7988T>C (ATM) | XP_011541145.1:p.Val2663Ala | |
| XM_011542844.1:c.6944T>C (ATM) | XP_011541146.1:p.Val2315Ala | |
| XM_011542845.1:c.6680T>C (ATM) | XP_011541147.1:p.Val2227Ala | |
| XM_011542847.1:c.3059T>C (ATM) | XP_011541149.1:p.Val1020Ala | |
| NM_001330368.1:c.641-24875A>G (C11orf65) | NP_001317297.1:n.641-24875A>G | |
| NM_001351110.1:c.*38+1274A>G (C11orf65) | NP_001338039.1:n.*38+1274A>G | |
| NM_001351834.1:c.7988T>C (ATM) | NP_001338763.1:p.Val2663Ala | |
| NR_147053.2:n.2374+1274A>G (C11orf65) | ||
| XM_005271414.4:c.*38+1274A>G (C11orf65) | XP_005271471.1:n.*38+1274A>G | |
| XM_005271415.4:c.804+1274A>G (C11orf65) | XP_005271472.1:n.804+1274A>G | |
| XM_005271562.5:c.7988T>C (ATM) | XP_005271619.2:p.Val2663Ala | |
| XM_006718843.4:c.7988T>C (ATM) | XP_006718906.1:p.Val2663Ala | |
| XM_006718845.2:c.3944T>C (ATM) | XP_006718908.1:p.Val1315Ala | |
| XM_011542840.3:c.7988T>C (ATM) | XP_011541142.1:p.Val2663Ala | |
| XM_011542842.3:c.7823T>C (ATM) | XP_011541144.1:p.Val2608Ala | |
| XM_011542843.2:c.7988T>C (ATM) | XP_011541145.1:p.Val2663Ala | |
| XM_011542844.3:c.6944T>C (ATM) | XP_011541146.1:p.Val2315Ala | |
| XM_011542845.2:c.6680T>C (ATM) | XP_011541147.1:p.Val2227Ala | |
| XM_017017789.2:c.7988T>C (ATM) | XP_016873278.1:p.Val2663Ala | |
| XM_017017790.2:c.7988T>C (ATM) | XP_016873279.1:p.Val2663Ala | |
| NM_001330368.2:c.641-24875A>G (C11orf65) | NP_001317297.1:n.641-24875A>G | |
| NM_001351110.2:c.*38+1274A>G (C11orf65) | NP_001338039.1:n.*38+1274A>G | |
| NM_001351834.2:c.7988T>C (ATM) | NP_001338763.1:p.Val2663Ala | |
| NM_000051.4:c.7988T>C (ATM) MANE Select | NP_000042.3:p.Val2663Ala | |
| NR_147053.3:n.2372+1274A>G (C11orf65) |