Linked Data
ClinVar Variation Id:
56057
ClinVar RCV Id:
RCV000049466
dbSNP Id:
rs386833538
PubMed:
PMID:16450403
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6556275C>G , CM000671.2:g.6556275C>G | GRCh38 |
| NC_000009.11:g.6556275C>G , CM000671.1:g.6556275C>G | GRCh37 |
| NC_000009.10:g.6546275C>G | NCBI36 |
| NG_016397.1:g.94418G>C , LRG_643:g.94418G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2080G>C MANE Select | ENSP00000370737.4:p.Ala694Pro | |
| ENST00000638233.1:n.515G>C | ||
| ENST00000638661.1:c.280G>C | ENSP00000491369.1:p.Ala94Pro | |
| ENST00000638694.1:n.267G>C | ||
| ENST00000639318.1:c.280G>C | ENSP00000491932.1:p.Ala94Pro | |
| ENST00000639364.1:n.1780G>C | ||
| ENST00000639443.1:n.1648G>C | ||
| ENST00000639954.1:n.1788G>C | ||
| ENST00000640505.1:n.319G>C | ||
| ENST00000321612.6:c.2080G>C | ENSP00000370737.3:p.Ala694Pro | |
| NM_000170.2:c.2080G>C , LRG_643t1:c.2080G>C | NP_000161.2:p.Ala694Pro | |
| NM_000170.3:c.2080G>C MANE Select | NP_000161.2:p.Ala694Pro |