Linked Data
ClinVar Variation Id:
543128
ClinVar RCV Id:
RCV000653791
dbSNP Id:
rs1554938534
gnomAD v4:
11-32389099-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32389099T>C , CM000673.2:g.32389099T>C | GRCh38 |
| NC_000011.9:g.32410645T>C , CM000673.1:g.32410645T>C | GRCh37 |
| NC_000011.8:g.32367221T>C | NCBI36 |
| NG_009272.1:g.51443A>G , LRG_525:g.51443A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1468A>G | ENSP00000331327.5:p.Met490Val | |
| ENST00000379077.9:c.*712A>G | ENSP00000368368.5:n.*712A>G | |
| ENST00000379079.8:c.868A>G | ENSP00000368370.2:p.Met290Val | |
| ENST00000448076.9:c.1519A>G | ENSP00000413452.5:p.Met507Val | |
| ENST00000452863.10:c.1528A>G MANE Select | ENSP00000415516.5:p.Met510Val | |
| ENST00000526685.2:n.973A>G | ||
| ENST00000639563.3:c.1477A>G | ENSP00000492269.3:p.Met493Val | |
| ENST00000639907.2:n.662A>G | ||
| ENST00000640146.2:c.853A>G | ENSP00000491984.2:p.Met285Val | |
| ENST00000650745.1:n.1338A>G | ||
| ENST00000650861.1:n.2100A>G | ||
| ENST00000650986.1:n.191A>G | ||
| ENST00000651459.1:c.299A>G | ||
| ENST00000651533.1:n.565A>G | ||
| ENST00000651668.1:n.465A>G | ||
| ENST00000651794.1:n.1371A>G | ||
| ENST00000651819.1:n.453A>G | ||
| ENST00000652579.1:n.788A>G | ||
| ENST00000652724.1:n.718A>G | ||
| ENST00000332351.7:c.1513A>G | ENSP00000331327.3:p.Met505Val | |
| ENST00000379077.7:c.*712A>G | ENSP00000368368.3:n.*712A>G | |
| ENST00000379079.6:c.868A>G | ENSP00000368370.2:p.Met290Val | |
| ENST00000448076.7:c.1504A>G | ENSP00000413452.3:p.Met502Val | |
| ENST00000452863.7:c.1453A>G | ENSP00000415516.3:p.Met485Val | |
| ENST00000527882.5:c.494A>G | ||
| ENST00000530998.5:c.826A>G | ENSP00000435307.1:p.Met276Val | |
| NM_000378.4:c.1453A>G | NP_000369.3:p.Met485Val | |
| NM_001198551.1:c.868A>G , LRG_525t2:c.868A>G | NP_001185480.1:p.Met290Val | |
| NM_001198552.1:c.826A>G | NP_001185481.1:p.Met276Val | |
| NM_024424.3:c.1504A>G | NP_077742.2:p.Met502Val | |
| NM_024426.4:c.1513A>G | NP_077744.3:p.Met505Val | |
| NM_000378.5:c.1468A>G | NP_000369.4:p.Met490Val | |
| NM_024424.4:c.1519A>G | NP_077742.3:p.Met507Val | |
| NM_024426.5:c.1528A>G | NP_077744.4:p.Met510Val | |
| NM_001367854.1:c.340A>G | NP_001354783.1:p.Met114Val | |
| NR_160306.1:n.1860A>G | ||
| NM_000378.6:c.1468A>G | NP_000369.4:p.Met490Val | |
| NM_001198552.2:c.826A>G | NP_001185481.1:p.Met276Val | |
| NM_024424.5:c.1519A>G | NP_077742.3:p.Met507Val | |
| NM_024426.6:c.1528A>G MANE Select | NP_077744.4:p.Met510Val |