Linked Data
ClinVar Variation Id:
218093
ClinVar RCV Id:
RCV000202321
dbSNP Id:
rs863225288
PubMed:
PMID:19926013
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150951607G>C , CM000669.2:g.150951607G>C | GRCh38 |
| NC_000007.13:g.150648695G>C , CM000669.1:g.150648695G>C | GRCh37 |
| NC_000007.12:g.150279628G>C | NCBI36 |
| NG_008916.1:g.31320C>G , LRG_288:g.31320C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1084C>G | ||
| ENST00000684241.1:n.2619C>G | ||
| ENST00000262186.10:c.1786C>G MANE Select | ENSP00000262186.5:p.Pro596Ala | |
| ENST00000330883.9:c.766C>G | ENSP00000328531.4:p.Pro256Ala | |
| ENST00000262186.9:c.1786C>G | ENSP00000262186.5:p.Pro596Ala | |
| ENST00000330883.8:c.766C>G | ENSP00000328531.4:p.Pro256Ala | |
| ENST00000430723.4:c.1438C>G | ENSP00000387657.4:p.Pro480Ala | |
| ENST00000461280.1:n.1073C>G | ||
| ENST00000473610.5:n.1091C>G | ||
| ENST00000532957.5:n.2009C>G | ||
| NM_000238.3:c.1786C>G , LRG_288t1:c.1786C>G | NP_000229.1:p.Pro596Ala | |
| NM_001204798.1:c.766C>G | NP_001191727.1:p.Pro256Ala | |
| NM_172056.2:c.1786C>G , LRG_288t2:c.1786C>G | NP_742053.1:p.Pro596Ala | |
| NM_172057.2:c.766C>G , LRG_288t3:c.766C>G | NP_742054.1:p.Pro256Ala | |
| XM_011516185.1:c.1486C>G | XP_011514487.1:p.Pro496Ala | |
| XM_011516186.1:c.1786C>G | XP_011514488.1:p.Pro596Ala | |
| XM_011516185.2:c.1486C>G | XP_011514487.1:p.Pro496Ala | |
| XM_011516186.3:c.1786C>G | XP_011514488.1:p.Pro596Ala | |
| XM_017012195.1:c.1636C>G | XP_016867684.1:p.Pro546Ala | |
| XM_017012196.1:c.1609C>G | XP_016867685.1:p.Pro537Ala | |
| NM_000238.4:c.1786C>G MANE Select | NP_000229.1:p.Pro596Ala | |
| NM_001204798.2:c.766C>G | NP_001191727.1:p.Pro256Ala | |
| NM_172057.3:c.766C>G | NP_742054.1:p.Pro256Ala |