Linked Data
ClinVar Variation Id:
38945
ClinVar RCV Id:
RCV000032196
dbSNP Id:
rs121912301
PubMed:
PMID:20301779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154765929G>C , CM000685.2:g.154765929G>C | GRCh38 |
| NC_000023.10:g.153994204G>C , CM000685.1:g.153994204G>C | GRCh37 |
| NC_000023.9:g.153647398G>C | NCBI36 |
| NG_009780.1:g.8174G>C , LRG_55:g.8174G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413910.6:c.194G>C | ENSP00000400542.2:p.Arg65Thr | |
| ENST00000426673.6:c.194G>C | ENSP00000407253.3:p.Arg65Thr | |
| ENST00000696575.1:c.194G>C | ENSP00000512730.1:p.Arg65Thr | |
| ENST00000696576.1:n.296G>C | ||
| ENST00000696577.1:c.194G>C | ENSP00000512731.1:p.Arg65Thr | |
| ENST00000696578.1:c.194G>C | ENSP00000512732.1:p.Arg65Thr | |
| ENST00000696579.1:n.296G>C | ||
| ENST00000696580.1:c.107G>C | ENSP00000512733.1:p.Arg36Thr | |
| ENST00000696581.1:c.*168G>C | ENSP00000512734.1:n.*168G>C | |
| ENST00000696582.1:c.194G>C | ENSP00000512735.1:p.Arg65Thr | |
| ENST00000696583.1:c.194G>C | ENSP00000512736.1:p.Arg65Thr | |
| ENST00000696584.1:n.718G>C | ||
| ENST00000696585.1:n.241G>C | ||
| ENST00000696586.1:n.241G>C | ||
| ENST00000696587.1:c.194G>C | ENSP00000512737.1:p.Arg65Thr | |
| ENST00000696588.1:c.-416G>C | ENSP00000513251.1:n.-416G>C | |
| ENST00000696627.1:c.194G>C | ENSP00000512764.1:p.Arg65Thr | |
| ENST00000696628.1:c.194G>C | ENSP00000512765.1:p.Arg65Thr | |
| ENST00000369550.10:c.194G>C MANE Select | ENSP00000358563.5:p.Arg65Thr | |
| ENST00000369550.9:c.194G>C | ENSP00000358563.5:p.Arg65Thr | |
| ENST00000413910.5:c.194G>C | ENSP00000400542.1:p.Arg65Thr | |
| ENST00000437719.5:c.150G>C | ||
| ENST00000452771.5:c.152G>C | ENSP00000407325.1:p.Arg51Thr | |
| ENST00000473552.1:n.247G>C | ||
| ENST00000620277.4:c.194G>C | ENSP00000478387.1:p.Arg65Thr | |
| NM_001142463.2:c.194G>C | NP_001135935.1:p.Arg65Thr | |
| NM_001288747.1:c.194G>C | NP_001275676.1:p.Arg65Thr | |
| NM_001363.4:c.194G>C | NP_001354.1:p.Arg65Thr | |
| NR_110021.1:n.895G>C | ||
| NR_110022.1:n.418G>C | ||
| NR_110023.1:n.418G>C | ||
| NM_001363.5:c.194G>C MANE Select | NP_001354.1:p.Arg65Thr | |
| NM_001142463.3:c.194G>C | NP_001135935.1:p.Arg65Thr | |
| NR_110021.2:n.773G>C | ||
| NR_110022.2:n.296G>C | ||
| NR_110023.2:n.296G>C | ||
| NM_001288747.2:c.194G>C | NP_001275676.1:p.Arg65Thr |