Linked Data
ClinVar Variation Id:
38938
ClinVar RCV Id:
RCV000032189
dbSNP Id:
rs199422253
PubMed:
PMID:20301779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154774639T>C , CM000685.2:g.154774639T>C | GRCh38 |
| NC_000023.10:g.154002914T>C , CM000685.1:g.154002914T>C | GRCh37 |
| NC_000023.9:g.153656108T>C | NCBI36 |
| NG_009780.1:g.16884T>C , LRG_55:g.16884T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413910.6:c.1073T>C | ENSP00000400542.2:p.Leu358Pro | |
| ENST00000426673.6:c.*576T>C | ENSP00000407253.3:n.*576T>C | |
| ENST00000484317.6:n.978T>C | ||
| ENST00000696575.1:c.1193T>C | ENSP00000512730.1:p.Leu398Pro | |
| ENST00000696577.1:c.1193T>C | ENSP00000512731.1:p.Leu398Pro | |
| ENST00000696578.1:c.*145T>C | ENSP00000512732.1:n.*145T>C | |
| ENST00000696579.1:n.1295T>C | ||
| ENST00000696580.1:c.1106T>C | ENSP00000512733.1:p.Leu369Pro | |
| ENST00000696581.1:c.*1167T>C | ENSP00000512734.1:n.*1167T>C | |
| ENST00000696582.1:c.*399T>C | ENSP00000512735.1:n.*399T>C | |
| ENST00000696583.1:c.1154T>C | ENSP00000512736.1:p.Leu385Pro | |
| ENST00000696584.1:n.1717T>C | ||
| ENST00000696585.1:n.1836T>C | ||
| ENST00000696586.1:n.1610T>C | ||
| ENST00000696587.1:c.1073T>C | ENSP00000512737.1:p.Leu358Pro | |
| ENST00000696588.1:c.584T>C | ENSP00000513251.1:p.Leu195Pro | |
| ENST00000696589.1:n.968T>C | ||
| ENST00000696590.1:n.817T>C | ||
| ENST00000696591.1:n.542T>C | ||
| ENST00000696592.1:n.2072T>C | ||
| ENST00000696627.1:c.*19T>C | ENSP00000512764.1:n.*19T>C | |
| ENST00000696628.1:c.1193T>C | ENSP00000512765.1:p.Leu398Pro | |
| ENST00000369550.10:c.1193T>C MANE Select | ENSP00000358563.5:p.Leu398Pro | |
| ENST00000369550.9:c.1193T>C | ENSP00000358563.5:p.Leu398Pro | |
| ENST00000412124.5:c.451T>C | ||
| ENST00000426673.5:c.553T>C | ||
| ENST00000475966.1:n.682T>C | ||
| ENST00000481062.1:n.144T>C | ||
| ENST00000620277.4:c.1193T>C | ENSP00000478387.1:p.Leu398Pro | |
| NM_001142463.2:c.1193T>C | NP_001135935.1:p.Leu398Pro | |
| NM_001288747.1:c.1193T>C | NP_001275676.1:p.Leu398Pro | |
| NM_001363.4:c.1193T>C | NP_001354.1:p.Leu398Pro | |
| NR_110021.1:n.1894T>C | ||
| NR_110022.1:n.2013T>C | ||
| NR_110023.1:n.1787T>C | ||
| NM_001363.5:c.1193T>C MANE Select | NP_001354.1:p.Leu398Pro | |
| NM_001142463.3:c.1193T>C | NP_001135935.1:p.Leu398Pro | |
| NR_110021.2:n.1772T>C | ||
| NR_110022.2:n.1891T>C | ||
| NR_110023.2:n.1665T>C | ||
| NM_001288747.2:c.1193T>C | NP_001275676.1:p.Leu398Pro |