Linked Data
ClinVar Variation Id:
38953
ClinVar RCV Id:
RCV000032204
dbSNP Id:
rs199422247
PubMed:
PMID:20301779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154769306G>A , CM000685.2:g.154769306G>A | GRCh38 |
| NC_000023.10:g.153997581G>A , CM000685.1:g.153997581G>A | GRCh37 |
| NC_000023.9:g.153650775G>A | NCBI36 |
| NG_009780.1:g.11551G>A , LRG_55:g.11551G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413910.6:c.791G>A | ENSP00000400542.2:p.Ser264Asn | |
| ENST00000426673.6:c.*294G>A | ENSP00000407253.3:n.*294G>A | |
| ENST00000484317.6:n.696G>A | ||
| ENST00000696575.1:c.911G>A | ENSP00000512730.1:p.Ser304Asn | |
| ENST00000696576.1:n.1013G>A | ||
| ENST00000696577.1:c.911G>A | ENSP00000512731.1:p.Ser304Asn | |
| ENST00000696578.1:c.911G>A | ENSP00000512732.1:p.Ser304Asn | |
| ENST00000696579.1:n.1013G>A | ||
| ENST00000696580.1:c.824G>A | ENSP00000512733.1:p.Ser275Asn | |
| ENST00000696581.1:c.*885G>A | ENSP00000512734.1:n.*885G>A | |
| ENST00000696582.1:c.*117G>A | ENSP00000512735.1:n.*117G>A | |
| ENST00000696583.1:c.872G>A | ENSP00000512736.1:p.Ser291Asn | |
| ENST00000696584.1:n.1435G>A | ||
| ENST00000696585.1:n.1554G>A | ||
| ENST00000696586.1:n.1328G>A | ||
| ENST00000696587.1:c.791G>A | ENSP00000512737.1:p.Ser264Asn | |
| ENST00000696588.1:c.302G>A | ENSP00000513251.1:p.Ser101Asn | |
| ENST00000696589.1:n.686G>A | ||
| ENST00000696590.1:n.535G>A | ||
| ENST00000696591.1:n.260G>A | ||
| ENST00000696627.1:c.911G>A | ENSP00000512764.1:p.Ser304Asn | |
| ENST00000696628.1:c.911G>A | ENSP00000512765.1:p.Ser304Asn | |
| ENST00000369550.10:c.911G>A MANE Select | ENSP00000358563.5:p.Ser304Asn | |
| ENST00000369550.9:c.911G>A | ENSP00000358563.5:p.Ser304Asn | |
| ENST00000412124.5:c.174-1453G>A | ||
| ENST00000426673.5:c.271G>A | ||
| ENST00000475966.1:n.400G>A | ||
| ENST00000484317.5:n.549G>A | ||
| ENST00000620277.4:c.911G>A | ENSP00000478387.1:p.Ser304Asn | |
| NM_001142463.2:c.911G>A | NP_001135935.1:p.Ser304Asn | |
| NM_001288747.1:c.911G>A | NP_001275676.1:p.Ser304Asn | |
| NM_001363.4:c.911G>A | NP_001354.1:p.Ser304Asn | |
| NR_110021.1:n.1612G>A | ||
| NR_110022.1:n.1731G>A | ||
| NR_110023.1:n.1505G>A | ||
| NM_001363.5:c.911G>A MANE Select | NP_001354.1:p.Ser304Asn | |
| NM_001142463.3:c.911G>A | NP_001135935.1:p.Ser304Asn | |
| NR_110021.2:n.1490G>A | ||
| NR_110022.2:n.1609G>A | ||
| NR_110023.2:n.1383G>A | ||
| NM_001288747.2:c.911G>A | NP_001275676.1:p.Ser304Asn |