Linked Data
ClinVar Variation Id:
133630
ClinVar RCV Id:
RCV000120154
RCV000131611
RCV001080465
RCV002225364
RCV003149825
RCV000710676
RCV003315729
dbSNP Id:
rs56815840
ExAC:
11:108190770 G / C
gnomAD v2:
11-108190770-G-C
gnomAD v3:
11-108320043-G-C
gnomAD v4:
11-108320043-G-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108320043G>C , CM000673.2:g.108320043G>C | GRCh38 |
| NC_000011.9:g.108190770G>C , CM000673.1:g.108190770G>C | GRCh37 |
| NC_000011.8:g.107695980G>C | NCBI36 |
| NG_009830.1:g.102212G>C , LRG_135:g.102212G>C | |
| NG_054724.1:g.154790C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.6437G>C (ATM) | ENSP00000388058.2:p.Ser2146Thr | |
| ENST00000713593.1:c.*5908G>C (ATM) | ENSP00000518889.1:n.*5908G>C | |
| ENST00000278616.9:c.6437G>C (ATM) | ENSP00000278616.4:p.Ser2146Thr | |
| ENST00000525056.2:n.856G>C (ATM) | ||
| ENST00000682286.1:n.1194G>C (ATM) | ||
| ENST00000682302.1:n.855G>C (ATM) | ||
| ENST00000683174.1:n.7921G>C (ATM) | ||
| ENST00000683524.1:n.1661G>C (ATM) | ||
| ENST00000684152.1:n.2151G>C (ATM) | ||
| ENST00000527805.6:c.*1501G>C (ATM) | ENSP00000435747.2:n.*1501G>C | |
| ENST00000675595.1:c.*1501G>C (ATM) | ENSP00000502563.1:n.*1501G>C | |
| ENST00000675843.1:c.6437G>C (ATM) MANE Select | ENSP00000501606.1:p.Ser2146Thr | |
| ENST00000278616.8:c.6437G>C (ATM) | ENSP00000278616.4:p.Ser2146Thr | |
| ENST00000452508.6:c.6437G>C (ATM) | ENSP00000388058.2:p.Ser2146Thr | |
| ENST00000524792.5:n.2652G>C (ATM) | ||
| ENST00000525729.5:c.641-10972C>G (C11orf65) | ENSP00000433395.1:n.641-10972C>G | |
| ENST00000533690.5:n.1841G>C (ATM) | ||
| NM_000051.3:c.6437G>C , LRG_135t1:c.6437G>C (ATM) | NP_000042.3:p.Ser2146Thr | |
| XM_005271561.3:c.6437G>C (ATM) | XP_005271618.2:p.Ser2146Thr | |
| XM_005271562.3:c.6437G>C (ATM) | XP_005271619.2:p.Ser2146Thr | |
| XM_006718843.2:c.6437G>C (ATM) | XP_006718906.1:p.Ser2146Thr | |
| XM_006718845.1:c.2393G>C (ATM) | XP_006718908.1:p.Ser798Thr | |
| XM_011542840.1:c.6437G>C (ATM) | XP_011541142.1:p.Ser2146Thr | |
| XM_011542841.1:c.6437G>C (ATM) | XP_011541143.1:p.Ser2146Thr | |
| XM_011542842.1:c.6272G>C (ATM) | XP_011541144.1:p.Ser2091Thr | |
| XM_011542843.1:c.6437G>C (ATM) | XP_011541145.1:p.Ser2146Thr | |
| XM_011542844.1:c.5393G>C (ATM) | XP_011541146.1:p.Ser1798Thr | |
| XM_011542845.1:c.5129G>C (ATM) | XP_011541147.1:p.Ser1710Thr | |
| XM_011542847.1:c.1508G>C (ATM) | XP_011541149.1:p.Ser503Thr | |
| NM_001330368.1:c.641-10972C>G (C11orf65) | NP_001317297.1:n.641-10972C>G | |
| NM_001351110.1:c.*39-10972C>G (C11orf65) | NP_001338039.1:n.*39-10972C>G | |
| NM_001351834.1:c.6437G>C (ATM) | NP_001338763.1:p.Ser2146Thr | |
| XM_005271562.5:c.6437G>C (ATM) | XP_005271619.2:p.Ser2146Thr | |
| XM_006718843.4:c.6437G>C (ATM) | XP_006718906.1:p.Ser2146Thr | |
| XM_006718845.2:c.2393G>C (ATM) | XP_006718908.1:p.Ser798Thr | |
| XM_011542840.3:c.6437G>C (ATM) | XP_011541142.1:p.Ser2146Thr | |
| XM_011542842.3:c.6272G>C (ATM) | XP_011541144.1:p.Ser2091Thr | |
| XM_011542843.2:c.6437G>C (ATM) | XP_011541145.1:p.Ser2146Thr | |
| XM_011542844.3:c.5393G>C (ATM) | XP_011541146.1:p.Ser1798Thr | |
| XM_011542845.2:c.5129G>C (ATM) | XP_011541147.1:p.Ser1710Thr | |
| XM_017017789.2:c.6437G>C (ATM) | XP_016873278.1:p.Ser2146Thr | |
| XM_017017790.2:c.6437G>C (ATM) | XP_016873279.1:p.Ser2146Thr | |
| XM_017017791.1:c.6437G>C (ATM) | XP_016873280.1:p.Ser2146Thr | |
| NM_001330368.2:c.641-10972C>G (C11orf65) | NP_001317297.1:n.641-10972C>G | |
| NM_001351110.2:c.*39-10972C>G (C11orf65) | NP_001338039.1:n.*39-10972C>G | |
| NM_001351834.2:c.6437G>C (ATM) | NP_001338763.1:p.Ser2146Thr | |
| NM_000051.4:c.6437G>C (ATM) MANE Select | NP_000042.3:p.Ser2146Thr |