Linked Data
ClinVar Variation Id:
187875
ClinVar RCV Id:
RCV000167595
dbSNP Id:
rs786204013
PubMed:
PMID:25736335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11801196T>G , CM000663.2:g.11801196T>G | GRCh38 |
| NC_000001.10:g.11861253T>G , CM000663.1:g.11861253T>G | GRCh37 |
| NC_000001.9:g.11783840T>G | NCBI36 |
| NG_008766.1:g.47T>G | |
| NG_013351.1:g.9908A>C , LRG_726:g.9908A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376486.3:c.440A>C | ENSP00000365669.3:p.Gln147Pro | |
| ENST00000376585.6:c.563A>C | ENSP00000365770.1:p.Gln188Pro | |
| ENST00000376590.9:c.440A>C MANE Select | ENSP00000365775.3:p.Gln147Pro | |
| ENST00000376592.6:c.440A>C | ENSP00000365777.1:p.Gln147Pro | |
| ENST00000423400.7:c.560A>C | ENSP00000398908.3:p.Gln187Pro | |
| ENST00000641407.1:c.440A>C | ENSP00000493098.1:p.Gln147Pro | |
| ENST00000641437.1:n.572A>C | ||
| ENST00000641446.1:c.440A>C | ENSP00000493262.1:p.Gln147Pro | |
| ENST00000641721.1:n.497A>C | ||
| ENST00000641747.1:c.237-874A>C | ENSP00000493116.1:n.237-874A>C | |
| ENST00000641759.1:n.575A>C | ||
| ENST00000641805.1:n.723A>C | ||
| ENST00000641909.1:n.850A>C | ||
| ENST00000376583.7:c.563A>C | ENSP00000365767.3:p.Gln188Pro | |
| ENST00000376585.5:c.563A>C | ENSP00000365770.1:p.Gln188Pro | |
| ENST00000376590.7:c.440A>C | ENSP00000365775.3:p.Gln147Pro | |
| ENST00000376592.5:c.440A>C | ENSP00000365777.1:p.Gln147Pro | |
| NM_005957.4:c.440A>C , LRG_726t1:c.440A>C | NP_005948.3:p.Gln147Pro | |
| XM_005263458.2:c.563A>C | XP_005263515.1:p.Gln188Pro | |
| XM_005263460.3:c.440A>C | XP_005263517.1:p.Gln147Pro | |
| XM_005263461.3:c.440A>C | XP_005263518.1:p.Gln147Pro | |
| XM_005263462.3:c.440A>C | XP_005263519.1:p.Gln147Pro | |
| XM_005263463.2:c.194A>C | XP_005263520.1:p.Gln65Pro | |
| XM_011541495.1:c.560A>C | XP_011539797.1:p.Gln187Pro | |
| XM_011541496.1:c.563A>C | XP_011539798.1:p.Gln188Pro | |
| NM_001330358.1:c.563A>C | NP_001317287.1:p.Gln188Pro | |
| XM_005263460.5:c.440A>C | XP_005263517.1:p.Gln147Pro | |
| XM_005263462.4:c.440A>C | XP_005263519.1:p.Gln147Pro | |
| XM_005263463.4:c.194A>C | XP_005263520.1:p.Gln65Pro | |
| XM_011541495.3:c.560A>C | XP_011539797.1:p.Gln187Pro | |
| XM_011541496.3:c.563A>C | XP_011539798.1:p.Gln188Pro | |
| XM_017001328.2:c.563A>C | XP_016856817.1:p.Gln188Pro | |
| XM_024447198.1:c.194A>C | XP_024302966.1:p.Gln65Pro | |
| XR_002956640.1:n.1307A>C | ||
| NM_005957.5:c.440A>C MANE Select | NP_005948.3:p.Gln147Pro | |
| NM_001330358.2:c.563A>C | NP_001317287.1:p.Gln188Pro |