Linked Data
ClinVar Variation Id:
18430
ClinVar RCV Id:
RCV000005298
dbSNP Id:
rs267607147
PubMed:
PMID:20577006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109784379G>C , CM000674.2:g.109784379G>C | GRCh38 |
| NC_000012.11:g.110222184G>C , CM000674.1:g.110222184G>C | GRCh37 |
| NC_000012.10:g.108706567G>C | NCBI36 |
| NG_017090.1:g.54029C>G , LRG_372:g.54029C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261740.7:c.2395C>G MANE Select | ENSP00000261740.2:p.Pro799Ala | |
| ENST00000418703.7:c.2395C>G | ENSP00000406191.2:p.Pro799Ala | |
| ENST00000674908.1:c.*1482C>G | ENSP00000502012.1:n.*1482C>G | |
| ENST00000675670.1:c.2395C>G | ENSP00000502135.1:p.Pro799Ala | |
| ENST00000261740.6:c.2395C>G | ENSP00000261740.2:p.Pro799Ala | |
| ENST00000418703.6:c.2395C>G | ENSP00000406191.2:p.Pro799Ala | |
| ENST00000536838.1:c.2293C>G | ENSP00000444336.1:p.Pro765Ala | |
| ENST00000537083.5:c.2215C>G | ENSP00000442738.1:p.Pro739Ala | |
| ENST00000538125.5:c.*778C>G | ENSP00000437449.1:n.*778C>G | |
| ENST00000541794.5:c.2254C>G | ENSP00000442167.1:p.Pro752Ala | |
| ENST00000544971.5:c.2074C>G | ENSP00000443611.1:p.Pro692Ala | |
| NM_001177428.1:c.2254C>G | NP_001170899.1:p.Pro752Ala | |
| NM_001177431.1:c.2293C>G | NP_001170902.1:p.Pro765Ala | |
| NM_001177433.1:c.2074C>G | NP_001170904.1:p.Pro692Ala | |
| NM_021625.4:c.2395C>G , LRG_372t1:c.2395C>G | NP_067638.3:p.Pro799Ala | |
| NM_147204.2:c.2215C>G | NP_671737.1:p.Pro739Ala | |
| XM_005253918.1:c.2395C>G | XP_005253975.1:p.Pro799Ala | |
| XM_011538630.1:c.2395C>G | XP_011536932.1:p.Pro799Ala | |
| XM_011538631.1:c.2254C>G | XP_011536933.1:p.Pro752Ala | |
| XM_011538632.1:c.2215C>G | XP_011536934.1:p.Pro739Ala | |
| XM_011538633.1:c.2074C>G | XP_011536935.1:p.Pro692Ala | |
| XM_011538630.2:c.2548C>G | XP_011536932.2:p.Pro850Ala | |
| XM_011538631.2:c.2407C>G | XP_011536933.2:p.Pro803Ala | |
| XM_011538632.2:c.2368C>G | XP_011536934.2:p.Pro790Ala | |
| XM_011538633.2:c.2227C>G | XP_011536935.2:p.Pro743Ala | |
| XM_017019774.1:c.2395C>G | XP_016875263.1:p.Pro799Ala | |
| NM_021625.5:c.2395C>G MANE Select | NP_067638.3:p.Pro799Ala |