Linked Data
ClinVar Variation Id:
135455
dbSNP Id:
rs147241955
ExAC:
11:32417913 C / T
gnomAD v2:
11-32417913-C-T
gnomAD v3:
11-32396367-C-T
gnomAD v4:
11-32396367-C-T
COSMIC:
COSM28974
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32396367C>T , CM000673.2:g.32396367C>T | GRCh38 |
| NC_000011.9:g.32417913C>T , CM000673.1:g.32417913C>T | GRCh37 |
| NC_000011.8:g.32374489C>T | NCBI36 |
| NG_009272.1:g.44175G>A , LRG_525:g.44175G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1103G>A | ENSP00000331327.5:p.Arg368Gln | |
| ENST00000379077.9:c.*338G>A | ENSP00000368368.5:n.*338G>A | |
| ENST00000379079.8:c.503G>A | ENSP00000368370.2:p.Arg168Gln | |
| ENST00000448076.9:c.1154G>A | ENSP00000413452.5:p.Arg385Gln | |
| ENST00000452863.10:c.1154G>A MANE Select | ENSP00000415516.5:p.Arg385Gln | |
| ENST00000526685.2:n.608G>A | ||
| ENST00000639563.3:c.1103G>A | ENSP00000492269.3:p.Arg368Gln | |
| ENST00000639907.2:n.297G>A | ||
| ENST00000640146.2:c.479G>A | ENSP00000491984.2:p.Arg160Gln | |
| ENST00000650861.1:n.1735G>A | ||
| ENST00000651459.1:c.35+3581G>A | ||
| ENST00000651668.1:n.91G>A | ||
| ENST00000651794.1:n.897G>A | ||
| ENST00000651819.1:n.79G>A | ||
| ENST00000652579.1:n.314G>A | ||
| ENST00000652724.1:n.344G>A | ||
| ENST00000332351.7:c.1139G>A | ENSP00000331327.3:p.Arg380Gln | |
| ENST00000379077.7:c.*338G>A | ENSP00000368368.3:n.*338G>A | |
| ENST00000379079.6:c.503G>A | ENSP00000368370.2:p.Arg168Gln | |
| ENST00000448076.7:c.1139G>A | ENSP00000413452.3:p.Arg380Gln | |
| ENST00000452863.7:c.1088G>A | ENSP00000415516.3:p.Arg363Gln | |
| ENST00000526685.1:c.-35G>A | ENSP00000436292.1:n.-35G>A | |
| ENST00000527775.1:c.392G>A | ENSP00000435351.1:p.Arg131Gln | |
| ENST00000527882.5:c.210G>A | ||
| ENST00000530998.5:c.452G>A | ENSP00000435307.1:p.Arg151Gln | |
| NM_000378.4:c.1088G>A | NP_000369.3:p.Arg363Gln | |
| NM_001198551.1:c.503G>A , LRG_525t2:c.503G>A | NP_001185480.1:p.Arg168Gln | |
| NM_001198552.1:c.452G>A | NP_001185481.1:p.Arg151Gln | |
| NM_024424.3:c.1139G>A | NP_077742.2:p.Arg380Gln | |
| NM_024426.4:c.1139G>A | NP_077744.3:p.Arg380Gln | |
| NM_000378.5:c.1103G>A | NP_000369.4:p.Arg368Gln | |
| NM_024424.4:c.1154G>A | NP_077742.3:p.Arg385Gln | |
| NM_024426.5:c.1154G>A | NP_077744.4:p.Arg385Gln | |
| NM_001367854.1:c.-35G>A | NP_001354783.1:n.-35G>A | |
| NR_160306.1:n.1486G>A | ||
| NM_000378.6:c.1103G>A | NP_000369.4:p.Arg368Gln | |
| NM_001198552.2:c.452G>A | NP_001185481.1:p.Arg151Gln | |
| NM_024424.5:c.1154G>A | NP_077742.3:p.Arg385Gln | |
| NM_024426.6:c.1154G>A MANE Select | NP_077744.4:p.Arg385Gln |