Linked Data
ClinVar Variation Id:
2212325
ClinVar RCV Id:
RCV004081905
dbSNP Id:
rs146739833
ExAC:
15:42364046 T / C
gnomAD v2:
15-42364046-T-C
gnomAD v3:
15-42071848-T-C
gnomAD v4:
15-42071848-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42071848T>C , CM000677.2:g.42071848T>C | GRCh38 |
| NC_000015.9:g.42364046T>C , CM000677.1:g.42364046T>C | GRCh37 |
| NC_000015.8:g.40151338T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290472.4:c.1499A>G MANE Select | ENSP00000290472.3:p.Glu500Gly | |
| ENST00000290472.3:c.1499A>G | ENSP00000290472.3:p.Glu500Gly | |
| ENST00000560932.1:n.31A>G | ||
| NM_178034.3:c.1499A>G | NP_828848.3:p.Glu500Gly | |
| XM_011521467.1:c.1331A>G | XP_011519769.1:p.Glu444Gly | |
| XR_931798.1:n.1599A>G | ||
| XM_011521467.2:c.1331A>G | XP_011519769.1:p.Glu444Gly | |
| XR_931798.2:n.1599A>G | ||
| NM_178034.4:c.1499A>G MANE Select | NP_828848.3:p.Glu500Gly |