Linked Data
ClinVar Variation Id:
38959
dbSNP Id:
rs121912291
gnomAD v4:
X-154770808-G-A
PubMed:
PMID:20301779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154770808G>A , CM000685.2:g.154770808G>A | GRCh38 |
| NC_000023.10:g.153999083G>A , CM000685.1:g.153999083G>A | GRCh37 |
| NC_000023.9:g.153652277G>A | NCBI36 |
| NG_009780.1:g.13053G>A , LRG_55:g.13053G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413910.6:c.845G>A | ENSP00000400542.2:p.Arg282Gln | |
| ENST00000426673.6:c.*348G>A | ENSP00000407253.3:n.*348G>A | |
| ENST00000484317.6:n.750G>A | ||
| ENST00000696575.1:c.965G>A | ENSP00000512730.1:p.Arg322Gln | |
| ENST00000696577.1:c.965G>A | ENSP00000512731.1:p.Arg322Gln | |
| ENST00000696578.1:c.915+1498G>A | ENSP00000512732.1:n.915+1498G>A | |
| ENST00000696579.1:n.1067G>A | ||
| ENST00000696580.1:c.878G>A | ENSP00000512733.1:p.Arg293Gln | |
| ENST00000696581.1:c.*939G>A | ENSP00000512734.1:n.*939G>A | |
| ENST00000696582.1:c.*171G>A | ENSP00000512735.1:n.*171G>A | |
| ENST00000696583.1:c.926G>A | ENSP00000512736.1:p.Arg309Gln | |
| ENST00000696584.1:n.1489G>A | ||
| ENST00000696585.1:n.1608G>A | ||
| ENST00000696586.1:n.1382G>A | ||
| ENST00000696587.1:c.845G>A | ENSP00000512737.1:p.Arg282Gln | |
| ENST00000696588.1:c.356G>A | ENSP00000513251.1:p.Arg119Gln | |
| ENST00000696589.1:n.740G>A | ||
| ENST00000696590.1:n.589G>A | ||
| ENST00000696591.1:n.314G>A | ||
| ENST00000696627.1:c.965G>A | ENSP00000512764.1:p.Arg322Gln | |
| ENST00000696628.1:c.965G>A | ENSP00000512765.1:p.Arg322Gln | |
| ENST00000369550.10:c.965G>A MANE Select | ENSP00000358563.5:p.Arg322Gln | |
| ENST00000369550.9:c.965G>A | ENSP00000358563.5:p.Arg322Gln | |
| ENST00000412124.5:c.223G>A | ||
| ENST00000426673.5:c.325G>A | ||
| ENST00000475966.1:n.454G>A | ||
| ENST00000484317.5:n.603G>A | ||
| ENST00000620277.4:c.965G>A | ENSP00000478387.1:p.Arg322Gln | |
| NM_001142463.2:c.965G>A | NP_001135935.1:p.Arg322Gln | |
| NM_001288747.1:c.965G>A | NP_001275676.1:p.Arg322Gln | |
| NM_001363.4:c.965G>A | NP_001354.1:p.Arg322Gln | |
| NR_110021.1:n.1666G>A | ||
| NR_110022.1:n.1785G>A | ||
| NR_110023.1:n.1559G>A | ||
| NM_001363.5:c.965G>A MANE Select | NP_001354.1:p.Arg322Gln | |
| NM_001142463.3:c.965G>A | NP_001135935.1:p.Arg322Gln | |
| NR_110021.2:n.1544G>A | ||
| NR_110022.2:n.1663G>A | ||
| NR_110023.2:n.1437G>A | ||
| NM_001288747.2:c.965G>A | NP_001275676.1:p.Arg322Gln |