Linked Data
ClinVar Variation Id:
1637448
ClinVar RCV Id:
RCV002131239
dbSNP Id:
rs2132919527
MyVariant Identifiers:
chr11:g.32414221T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32392675T>G , CM000673.2:g.32392675T>G | GRCh38 |
| NC_000011.9:g.32414221T>G , CM000673.1:g.32414221T>G | GRCh37 |
| NC_000011.8:g.32370797T>G | NCBI36 |
| NG_009272.1:g.47867A>C , LRG_525:g.47867A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332351.9:c.1294A>C | ENSP00000331327.5:p.Arg432= | |
| ENST00000379077.9:c.*529A>C | ENSP00000368368.5:n.*529A>C | |
| ENST00000379079.8:c.694A>C | ENSP00000368370.2:p.Arg232= | |
| ENST00000448076.9:c.1345A>C | ENSP00000413452.5:p.Arg449= | |
| ENST00000452863.10:c.1345A>C MANE Select | ENSP00000415516.5:p.Arg449= | |
| ENST00000526685.2:n.799A>C | ||
| ENST00000639563.3:c.1294A>C | ENSP00000492269.3:p.Arg432= | |
| ENST00000639907.2:n.488A>C | ||
| ENST00000640146.2:c.670A>C | ENSP00000491984.2:p.Arg224= | |
| ENST00000650745.1:n.554A>C | ||
| ENST00000650861.1:n.1926A>C | ||
| ENST00000651459.1:c.116A>C | ||
| ENST00000651533.1:n.391A>C | ||
| ENST00000651668.1:n.282A>C | ||
| ENST00000651794.1:n.1188A>C | ||
| ENST00000651819.1:n.270A>C | ||
| ENST00000652579.1:n.605A>C | ||
| ENST00000652724.1:n.535A>C | ||
| ENST00000332351.7:c.1330A>C | ENSP00000331327.3:p.Arg444= | |
| ENST00000379077.7:c.*529A>C | ENSP00000368368.3:n.*529A>C | |
| ENST00000379079.6:c.694A>C | ENSP00000368370.2:p.Arg232= | |
| ENST00000448076.7:c.1330A>C | ENSP00000413452.3:p.Arg444= | |
| ENST00000452863.7:c.1279A>C | ENSP00000415516.3:p.Arg427= | |
| ENST00000527882.5:c.321-611A>C | ||
| ENST00000530998.5:c.643A>C | ENSP00000435307.1:p.Arg215= | |
| NM_000378.4:c.1279A>C | NP_000369.3:p.Arg427= | |
| NM_001198551.1:c.694A>C , LRG_525t2:c.694A>C | NP_001185480.1:p.Arg232= | |
| NM_001198552.1:c.643A>C | NP_001185481.1:p.Arg215= | |
| NM_024424.3:c.1330A>C | NP_077742.2:p.Arg444= | |
| NM_024426.4:c.1330A>C | NP_077744.3:p.Arg444= | |
| NM_000378.5:c.1294A>C | NP_000369.4:p.Arg432= | |
| NM_024424.4:c.1345A>C | NP_077742.3:p.Arg449= | |
| NM_024426.5:c.1345A>C | NP_077744.4:p.Arg449= | |
| NM_001367854.1:c.157A>C | NP_001354783.1:p.Arg53= | |
| NR_160306.1:n.1677A>C | ||
| NM_000378.6:c.1294A>C | NP_000369.4:p.Arg432= | |
| NM_001198552.2:c.643A>C | NP_001185481.1:p.Arg215= | |
| NM_024424.5:c.1345A>C | NP_077742.3:p.Arg449= | |
| NM_024426.6:c.1345A>C MANE Select | NP_077744.4:p.Arg449= |