Linked Data
ClinVar Variation Id:
38934
ClinVar RCV Id:
RCV000032185
dbSNP Id:
rs199422250
PubMed:
PMID:20301779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154773244C>T , CM000685.2:g.154773244C>T | GRCh38 |
| NC_000023.10:g.154001519C>T , CM000685.1:g.154001519C>T | GRCh37 |
| NC_000023.9:g.153654713C>T | NCBI36 |
| NG_009780.1:g.15489C>T , LRG_55:g.15489C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413910.6:c.1030C>T | ENSP00000400542.2:p.Pro344Ser | |
| ENST00000426673.6:c.*533C>T | ENSP00000407253.3:n.*533C>T | |
| ENST00000484317.6:n.935C>T | ||
| ENST00000696575.1:c.1150C>T | ENSP00000512730.1:p.Pro384Ser | |
| ENST00000696577.1:c.1150C>T | ENSP00000512731.1:p.Pro384Ser | |
| ENST00000696578.1:c.*102C>T | ENSP00000512732.1:n.*102C>T | |
| ENST00000696579.1:n.1252C>T | ||
| ENST00000696580.1:c.1063C>T | ENSP00000512733.1:p.Pro355Ser | |
| ENST00000696581.1:c.*1124C>T | ENSP00000512734.1:n.*1124C>T | |
| ENST00000696582.1:c.*356C>T | ENSP00000512735.1:n.*356C>T | |
| ENST00000696583.1:c.1111C>T | ENSP00000512736.1:p.Pro371Ser | |
| ENST00000696584.1:n.1674C>T | ||
| ENST00000696585.1:n.1793C>T | ||
| ENST00000696586.1:n.1567C>T | ||
| ENST00000696587.1:c.1030C>T | ENSP00000512737.1:p.Pro344Ser | |
| ENST00000696588.1:c.541C>T | ENSP00000513251.1:p.Pro181Ser | |
| ENST00000696589.1:n.925C>T | ||
| ENST00000696590.1:n.774C>T | ||
| ENST00000696591.1:n.499C>T | ||
| ENST00000696592.1:n.2029C>T | ||
| ENST00000696627.1:c.1150C>T | ENSP00000512764.1:p.Pro384Ser | |
| ENST00000696628.1:c.1150C>T | ENSP00000512765.1:p.Pro384Ser | |
| ENST00000369550.10:c.1150C>T MANE Select | ENSP00000358563.5:p.Pro384Ser | |
| ENST00000369550.9:c.1150C>T | ENSP00000358563.5:p.Pro384Ser | |
| ENST00000412124.5:c.408C>T | ||
| ENST00000426673.5:c.510C>T | ||
| ENST00000475966.1:n.639C>T | ||
| ENST00000481062.1:n.101C>T | ||
| ENST00000620277.4:c.1150C>T | ENSP00000478387.1:p.Pro384Ser | |
| NM_001142463.2:c.1150C>T | NP_001135935.1:p.Pro384Ser | |
| NM_001288747.1:c.1150C>T | NP_001275676.1:p.Pro384Ser | |
| NM_001363.4:c.1150C>T | NP_001354.1:p.Pro384Ser | |
| NR_110021.1:n.1851C>T | ||
| NR_110022.1:n.1970C>T | ||
| NR_110023.1:n.1744C>T | ||
| NM_001363.5:c.1150C>T MANE Select | NP_001354.1:p.Pro384Ser | |
| NM_001142463.3:c.1150C>T | NP_001135935.1:p.Pro384Ser | |
| NR_110021.2:n.1729C>T | ||
| NR_110022.2:n.1848C>T | ||
| NR_110023.2:n.1622C>T | ||
| NM_001288747.2:c.1150C>T | NP_001275676.1:p.Pro384Ser |