Linked Data
ClinVar Variation Id:
2338703
ClinVar RCV Id:
RCV004180533
dbSNP Id:
rs773365308
ExAC:
15:42373789 A / G
gnomAD v2:
15-42373789-A-G
gnomAD v4:
15-42081591-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42081591A>G , CM000677.2:g.42081591A>G | GRCh38 |
| NC_000015.9:g.42373789A>G , CM000677.1:g.42373789A>G | GRCh37 |
| NC_000015.8:g.40161081A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290472.4:c.845T>C MANE Select | ENSP00000290472.3:p.Leu282Pro | |
| ENST00000290472.3:c.845T>C | ENSP00000290472.3:p.Leu282Pro | |
| ENST00000560132.1:n.572-458T>C | ||
| NM_178034.3:c.845T>C | NP_828848.3:p.Leu282Pro | |
| XM_011521467.1:c.677T>C | XP_011519769.1:p.Leu226Pro | |
| XR_931798.1:n.945T>C | ||
| XM_011521467.2:c.677T>C | XP_011519769.1:p.Leu226Pro | |
| XR_931798.2:n.945T>C | ||
| NM_178034.4:c.845T>C MANE Select | NP_828848.3:p.Leu282Pro |