Linked Data
ClinVar Variation Id:
3489
ClinVar RCV Id:
RCV001376854
dbSNP Id:
rs121907902
COSMIC:
COSM96858
PubMed:
PMID:1655284
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32392013T>C , CM000673.2:g.32392013T>C | GRCh38 |
| NC_000011.9:g.32413559T>C , CM000673.1:g.32413559T>C | GRCh37 |
| NC_000011.8:g.32370135T>C | NCBI36 |
| NG_009272.1:g.48529A>G , LRG_525:g.48529A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332351.9:c.1355A>G | ENSP00000331327.5:p.Asp452Gly | |
| ENST00000379077.9:c.*590A>G | ENSP00000368368.5:n.*590A>G | |
| ENST00000379079.8:c.755A>G | ENSP00000368370.2:p.Asp252Gly | |
| ENST00000448076.9:c.1406A>G | ENSP00000413452.5:p.Asp469Gly | |
| ENST00000452863.10:c.1406A>G MANE Select | ENSP00000415516.5:p.Asp469Gly | |
| ENST00000526685.2:n.860A>G | ||
| ENST00000639563.3:c.1355A>G | ENSP00000492269.3:p.Asp452Gly | |
| ENST00000639907.2:n.549A>G | ||
| ENST00000640146.2:c.731A>G | ENSP00000491984.2:p.Asp244Gly | |
| ENST00000650745.1:n.1216A>G | ||
| ENST00000650861.1:n.1987A>G | ||
| ENST00000650986.1:n.69A>G | ||
| ENST00000651459.1:c.177A>G | ||
| ENST00000651533.1:n.452A>G | ||
| ENST00000651668.1:n.343A>G | ||
| ENST00000651794.1:n.1249A>G | ||
| ENST00000651819.1:n.331A>G | ||
| ENST00000652579.1:n.666A>G | ||
| ENST00000652724.1:n.596A>G | ||
| ENST00000332351.7:c.1391A>G | ENSP00000331327.3:p.Asp464Gly | |
| ENST00000379077.7:c.*590A>G | ENSP00000368368.3:n.*590A>G | |
| ENST00000379079.6:c.755A>G | ENSP00000368370.2:p.Asp252Gly | |
| ENST00000448076.7:c.1391A>G | ENSP00000413452.3:p.Asp464Gly | |
| ENST00000452863.7:c.1340A>G | ENSP00000415516.3:p.Asp447Gly | |
| ENST00000527882.5:c.372A>G | ||
| ENST00000530998.5:c.704A>G | ENSP00000435307.1:p.Asp235Gly | |
| NM_000378.4:c.1340A>G | NP_000369.3:p.Asp447Gly | |
| NM_001198551.1:c.755A>G , LRG_525t2:c.755A>G | NP_001185480.1:p.Asp252Gly | |
| NM_001198552.1:c.704A>G | NP_001185481.1:p.Asp235Gly | |
| NM_024424.3:c.1391A>G | NP_077742.2:p.Asp464Gly | |
| NM_024426.4:c.1391A>G | NP_077744.3:p.Asp464Gly | |
| NM_000378.5:c.1355A>G | NP_000369.4:p.Asp452Gly | |
| NM_024424.4:c.1406A>G | NP_077742.3:p.Asp469Gly | |
| NM_024426.5:c.1406A>G | NP_077744.4:p.Asp469Gly | |
| NM_001367854.1:c.218A>G | NP_001354783.1:p.Asp73Gly | |
| NR_160306.1:n.1738A>G | ||
| NM_000378.6:c.1355A>G | NP_000369.4:p.Asp452Gly | |
| NM_001198552.2:c.704A>G | NP_001185481.1:p.Asp235Gly | |
| NM_024424.5:c.1406A>G | NP_077742.3:p.Asp469Gly | |
| NM_024426.6:c.1406A>G MANE Select | NP_077744.4:p.Asp469Gly |