Linked Data
ClinVar Variation Id:
56106
ClinVar RCV Id:
RCV000049515
dbSNP Id:
rs386833589
gnomAD v2:
9-6605145-C-G
gnomAD v3:
9-6605145-C-G
gnomAD v4:
9-6605145-C-G
PubMed:
PMID:12126939
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6605145C>G , CM000671.2:g.6605145C>G | GRCh38 |
| NC_000009.11:g.6605145C>G , CM000671.1:g.6605145C>G | GRCh37 |
| NC_000009.10:g.6595145C>G | NCBI36 |
| NG_016397.1:g.45548G>C , LRG_643:g.45548G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.847G>C MANE Select | ENSP00000370737.4:p.Ala283Pro | |
| ENST00000638654.1:c.94G>C | ENSP00000491101.1:p.Ala32Pro | |
| ENST00000639364.1:n.547G>C | ||
| ENST00000639443.1:n.415G>C | ||
| ENST00000639954.1:n.555G>C | ||
| ENST00000640592.1:n.730G>C | ||
| ENST00000321612.6:c.847G>C | ENSP00000370737.3:p.Ala283Pro | |
| ENST00000463305.1:n.128G>C | ||
| NM_000170.2:c.847G>C , LRG_643t1:c.847G>C | NP_000161.2:p.Ala283Pro | |
| NM_000170.3:c.847G>C MANE Select | NP_000161.2:p.Ala283Pro |