Linked Data
ClinVar Variation Id:
38935
ClinVar RCV Id:
RCV000032186
dbSNP Id:
rs199422251
gnomAD v4:
X-154773245-C-T
PubMed:
PMID:20301779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154773245C>T , CM000685.2:g.154773245C>T | GRCh38 |
| NC_000023.10:g.154001520C>T , CM000685.1:g.154001520C>T | GRCh37 |
| NC_000023.9:g.153654714C>T | NCBI36 |
| NG_009780.1:g.15490C>T , LRG_55:g.15490C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413910.6:c.1031C>T | ENSP00000400542.2:p.Pro344Leu | |
| ENST00000426673.6:c.*534C>T | ENSP00000407253.3:n.*534C>T | |
| ENST00000484317.6:n.936C>T | ||
| ENST00000696575.1:c.1151C>T | ENSP00000512730.1:p.Pro384Leu | |
| ENST00000696577.1:c.1151C>T | ENSP00000512731.1:p.Pro384Leu | |
| ENST00000696578.1:c.*103C>T | ENSP00000512732.1:n.*103C>T | |
| ENST00000696579.1:n.1253C>T | ||
| ENST00000696580.1:c.1064C>T | ENSP00000512733.1:p.Pro355Leu | |
| ENST00000696581.1:c.*1125C>T | ENSP00000512734.1:n.*1125C>T | |
| ENST00000696582.1:c.*357C>T | ENSP00000512735.1:n.*357C>T | |
| ENST00000696583.1:c.1112C>T | ENSP00000512736.1:p.Pro371Leu | |
| ENST00000696584.1:n.1675C>T | ||
| ENST00000696585.1:n.1794C>T | ||
| ENST00000696586.1:n.1568C>T | ||
| ENST00000696587.1:c.1031C>T | ENSP00000512737.1:p.Pro344Leu | |
| ENST00000696588.1:c.542C>T | ENSP00000513251.1:p.Pro181Leu | |
| ENST00000696589.1:n.926C>T | ||
| ENST00000696590.1:n.775C>T | ||
| ENST00000696591.1:n.500C>T | ||
| ENST00000696592.1:n.2030C>T | ||
| ENST00000696627.1:c.1151C>T | ENSP00000512764.1:p.Pro384Leu | |
| ENST00000696628.1:c.1151C>T | ENSP00000512765.1:p.Pro384Leu | |
| ENST00000369550.10:c.1151C>T MANE Select | ENSP00000358563.5:p.Pro384Leu | |
| ENST00000369550.9:c.1151C>T | ENSP00000358563.5:p.Pro384Leu | |
| ENST00000412124.5:c.409C>T | ||
| ENST00000426673.5:c.511C>T | ||
| ENST00000475966.1:n.640C>T | ||
| ENST00000481062.1:n.102C>T | ||
| ENST00000620277.4:c.1151C>T | ENSP00000478387.1:p.Pro384Leu | |
| NM_001142463.2:c.1151C>T | NP_001135935.1:p.Pro384Leu | |
| NM_001288747.1:c.1151C>T | NP_001275676.1:p.Pro384Leu | |
| NM_001363.4:c.1151C>T | NP_001354.1:p.Pro384Leu | |
| NR_110021.1:n.1852C>T | ||
| NR_110022.1:n.1971C>T | ||
| NR_110023.1:n.1745C>T | ||
| NM_001363.5:c.1151C>T MANE Select | NP_001354.1:p.Pro384Leu | |
| NM_001142463.3:c.1151C>T | NP_001135935.1:p.Pro384Leu | |
| NR_110021.2:n.1730C>T | ||
| NR_110022.2:n.1849C>T | ||
| NR_110023.2:n.1623C>T | ||
| NM_001288747.2:c.1151C>T | NP_001275676.1:p.Pro384Leu |