Linked Data
ClinVar Variation Id:
38948
ClinVar RCV Id:
RCV000032199
dbSNP Id:
rs199422245
PubMed:
PMID:20301779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154765939C>A , CM000685.2:g.154765939C>A | GRCh38 |
| NC_000023.10:g.153994214C>A , CM000685.1:g.153994214C>A | GRCh37 |
| NC_000023.9:g.153647408C>A | NCBI36 |
| NG_009780.1:g.8184C>A , LRG_55:g.8184C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413910.6:c.204C>A | ENSP00000400542.2:p.His68Gln | |
| ENST00000426673.6:c.204C>A | ENSP00000407253.3:p.His68Gln | |
| ENST00000696575.1:c.204C>A | ENSP00000512730.1:p.His68Gln | |
| ENST00000696576.1:n.306C>A | ||
| ENST00000696577.1:c.204C>A | ENSP00000512731.1:p.His68Gln | |
| ENST00000696578.1:c.204C>A | ENSP00000512732.1:p.His68Gln | |
| ENST00000696579.1:n.306C>A | ||
| ENST00000696580.1:c.117C>A | ENSP00000512733.1:p.His39Gln | |
| ENST00000696581.1:c.*178C>A | ENSP00000512734.1:n.*178C>A | |
| ENST00000696582.1:c.204C>A | ENSP00000512735.1:p.His68Gln | |
| ENST00000696583.1:c.204C>A | ENSP00000512736.1:p.His68Gln | |
| ENST00000696584.1:n.728C>A | ||
| ENST00000696585.1:n.251C>A | ||
| ENST00000696586.1:n.251C>A | ||
| ENST00000696587.1:c.204C>A | ENSP00000512737.1:p.His68Gln | |
| ENST00000696588.1:c.-406C>A | ENSP00000513251.1:n.-406C>A | |
| ENST00000696627.1:c.204C>A | ENSP00000512764.1:p.His68Gln | |
| ENST00000696628.1:c.204C>A | ENSP00000512765.1:p.His68Gln | |
| ENST00000369550.10:c.204C>A MANE Select | ENSP00000358563.5:p.His68Gln | |
| ENST00000369550.9:c.204C>A | ENSP00000358563.5:p.His68Gln | |
| ENST00000413910.5:c.204C>A | ENSP00000400542.1:p.His68Gln | |
| ENST00000437719.5:c.160C>A | ||
| ENST00000452771.5:c.162C>A | ENSP00000407325.1:p.His54Gln | |
| ENST00000473552.1:n.257C>A | ||
| ENST00000620277.4:c.204C>A | ENSP00000478387.1:p.His68Gln | |
| NM_001142463.2:c.204C>A | NP_001135935.1:p.His68Gln | |
| NM_001288747.1:c.204C>A | NP_001275676.1:p.His68Gln | |
| NM_001363.4:c.204C>A | NP_001354.1:p.His68Gln | |
| NR_110021.1:n.905C>A | ||
| NR_110022.1:n.428C>A | ||
| NR_110023.1:n.428C>A | ||
| NM_001363.5:c.204C>A MANE Select | NP_001354.1:p.His68Gln | |
| NM_001142463.3:c.204C>A | NP_001135935.1:p.His68Gln | |
| NR_110021.2:n.783C>A | ||
| NR_110022.2:n.306C>A | ||
| NR_110023.2:n.306C>A | ||
| NM_001288747.2:c.204C>A | NP_001275676.1:p.His68Gln |