Linked Data
ClinVar Variation Id:
127434
ClinVar RCV Id:
RCV000115239
RCV000212056
RCV001079437
RCV001201251
RCV001843477
RCV003492467
RCV004549567
dbSNP Id:
rs150503164
ExAC:
11:108198394 C / A
gnomAD v2:
11-108198394-C-A
gnomAD v3:
11-108327667-C-A
gnomAD v4:
11-108327667-C-A
PubMed:
PMID:21665257
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108327667C>A , CM000673.2:g.108327667C>A | GRCh38 |
| NC_000011.9:g.108198394C>A , CM000673.1:g.108198394C>A | GRCh37 |
| NC_000011.8:g.107703604C>A | NCBI36 |
| NG_009830.1:g.109836C>A , LRG_135:g.109836C>A | |
| NG_054724.1:g.147166G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.6998C>A (ATM) | ENSP00000388058.2:p.Thr2333Lys | |
| ENST00000713593.1:c.*6469C>A (ATM) | ENSP00000518889.1:n.*6469C>A | |
| ENST00000278616.9:c.6998C>A (ATM) | ENSP00000278616.4:p.Thr2333Lys | |
| ENST00000525056.2:n.1417C>A (ATM) | ||
| ENST00000682286.1:n.1755C>A (ATM) | ||
| ENST00000682302.1:n.1416C>A (ATM) | ||
| ENST00000683174.1:n.8482C>A (ATM) | ||
| ENST00000683524.1:n.2222C>A (ATM) | ||
| ENST00000684152.1:n.2712C>A (ATM) | ||
| ENST00000684447.1:n.1461C>A (ATM) | ||
| ENST00000527805.6:c.*2062C>A (ATM) | ENSP00000435747.2:n.*2062C>A | |
| ENST00000675595.1:c.*2133C>A (ATM) | ENSP00000502563.1:n.*2133C>A | |
| ENST00000675843.1:c.6998C>A (ATM) MANE Select | ENSP00000501606.1:p.Thr2333Lys | |
| ENST00000278616.8:c.6998C>A (ATM) | ENSP00000278616.4:p.Thr2333Lys | |
| ENST00000452508.6:c.6998C>A (ATM) | ENSP00000388058.2:p.Thr2333Lys | |
| ENST00000524792.5:n.3213C>A (ATM) | ||
| ENST00000525537.2:n.274C>A (ATM) | ||
| ENST00000525729.5:c.641-18596G>T (C11orf65) | ENSP00000433395.1:n.641-18596G>T | |
| ENST00000527389.2:n.23C>A (ATM) | ||
| ENST00000533690.5:n.2402C>A (ATM) | ||
| NM_000051.3:c.6998C>A , LRG_135t1:c.6998C>A (ATM) | NP_000042.3:p.Thr2333Lys | |
| XM_005271561.3:c.6998C>A (ATM) | XP_005271618.2:p.Thr2333Lys | |
| XM_005271562.3:c.6998C>A (ATM) | XP_005271619.2:p.Thr2333Lys | |
| XM_006718843.2:c.6998C>A (ATM) | XP_006718906.1:p.Thr2333Lys | |
| XM_006718845.1:c.2954C>A (ATM) | XP_006718908.1:p.Thr985Lys | |
| XM_011542840.1:c.6998C>A (ATM) | XP_011541142.1:p.Thr2333Lys | |
| XM_011542841.1:c.6998C>A (ATM) | XP_011541143.1:p.Thr2333Lys | |
| XM_011542842.1:c.6833C>A (ATM) | XP_011541144.1:p.Thr2278Lys | |
| XM_011542843.1:c.6998C>A (ATM) | XP_011541145.1:p.Thr2333Lys | |
| XM_011542844.1:c.5954C>A (ATM) | XP_011541146.1:p.Thr1985Lys | |
| XM_011542845.1:c.5690C>A (ATM) | XP_011541147.1:p.Thr1897Lys | |
| XM_011542847.1:c.2069C>A (ATM) | XP_011541149.1:p.Thr690Lys | |
| NM_001330368.1:c.641-18596G>T (C11orf65) | NP_001317297.1:n.641-18596G>T | |
| NM_001351110.1:c.*38+7553G>T (C11orf65) | NP_001338039.1:n.*38+7553G>T | |
| NM_001351834.1:c.6998C>A (ATM) | NP_001338763.1:p.Thr2333Lys | |
| XM_005271562.5:c.6998C>A (ATM) | XP_005271619.2:p.Thr2333Lys | |
| XM_006718843.4:c.6998C>A (ATM) | XP_006718906.1:p.Thr2333Lys | |
| XM_006718845.2:c.2954C>A (ATM) | XP_006718908.1:p.Thr985Lys | |
| XM_011542840.3:c.6998C>A (ATM) | XP_011541142.1:p.Thr2333Lys | |
| XM_011542842.3:c.6833C>A (ATM) | XP_011541144.1:p.Thr2278Lys | |
| XM_011542843.2:c.6998C>A (ATM) | XP_011541145.1:p.Thr2333Lys | |
| XM_011542844.3:c.5954C>A (ATM) | XP_011541146.1:p.Thr1985Lys | |
| XM_011542845.2:c.5690C>A (ATM) | XP_011541147.1:p.Thr1897Lys | |
| XM_017017789.2:c.6998C>A (ATM) | XP_016873278.1:p.Thr2333Lys | |
| XM_017017790.2:c.6998C>A (ATM) | XP_016873279.1:p.Thr2333Lys | |
| NM_001330368.2:c.641-18596G>T (C11orf65) | NP_001317297.1:n.641-18596G>T | |
| NM_001351110.2:c.*38+7553G>T (C11orf65) | NP_001338039.1:n.*38+7553G>T | |
| NM_001351834.2:c.6998C>A (ATM) | NP_001338763.1:p.Thr2333Lys | |
| NM_000051.4:c.6998C>A (ATM) MANE Select | NP_000042.3:p.Thr2333Lys |