Linked Data
ClinVar Variation Id:
1600518
ClinVar RCV Id:
RCV002118059
dbSNP Id:
rs142954778
ExAC:
15:65472527 C / G
gnomAD v2:
15-65472527-C-G
gnomAD v3:
15-65180189-C-G
gnomAD v4:
15-65180189-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65180189C>G , CM000677.2:g.65180189C>G | GRCh38 |
| NC_000015.9:g.65472527C>G , CM000677.1:g.65472527C>G | GRCh37 |
| NC_000015.8:g.63259580C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300107.7:c.95G>C MANE Select | ENSP00000300107.3:p.Arg32Pro | |
| ENST00000558958.1:n.284G>C | ||
| ENST00000559152.5:c.95G>C | ENSP00000453461.1:p.Arg32Pro | |
| ENST00000559218.1:c.-8G>C | ENSP00000452611.1:n.-8G>C | |
| NM_006660.3:c.95G>C | NP_006651.2:p.Arg32Pro | |
| XM_011521164.1:c.95G>C | XP_011519466.1:p.Arg32Pro | |
| XR_931743.1:n.346G>C | ||
| NM_006660.4:c.95G>C | NP_006651.2:p.Arg32Pro | |
| NR_133680.1:n.362G>C | ||
| XM_011521164.3:c.95G>C | XP_011519466.1:p.Arg32Pro | |
| XR_931743.3:n.316G>C | ||
| NM_006660.5:c.95G>C MANE Select | NP_006651.2:p.Arg32Pro | |
| NR_133680.2:n.284G>C |