Linked Data
ClinVar Variation Id:
31692
ClinVar RCV Id:
RCV000024370
dbSNP Id:
rs672601332
PubMed:
PMID:22544365
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37780795A>G , CM000671.2:g.37780795A>G | GRCh38 |
| NC_000009.11:g.37780792A>G , CM000671.1:g.37780792A>G | GRCh37 |
| NC_000009.10:g.37770792A>G | NCBI36 |
| NG_032780.1:g.9298T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327304.10:c.712T>C MANE Select | ENSP00000323046.4:p.Trp238Arg | |
| ENST00000465860.6:n.1518T>C | ||
| ENST00000678095.1:c.166T>C | ENSP00000503205.1:p.Trp56Arg | |
| ENST00000679059.1:c.*65T>C | ENSP00000503947.1:n.*65T>C | |
| ENST00000327304.9:c.712T>C | ENSP00000323046.4:p.Trp238Arg | |
| ENST00000396521.3:c.*65T>C | ENSP00000379775.3:n.*65T>C | |
| ENST00000465229.5:c.*65T>C | ENSP00000418422.1:n.*65T>C | |
| ENST00000489414.5:n.431T>C | ||
| ENST00000490516.5:n.566T>C | ||
| ENST00000540557.1:c.*910+3119T>C | ENSP00000457548.1:n.*910+3119T>C | |
| NM_001002269.2:c.*65T>C | NP_001002269.1:n.*65T>C | |
| NM_016042.3:c.712T>C | NP_057126.2:p.Trp238Arg | |
| NM_016042.4:c.712T>C MANE Select | NP_057126.2:p.Trp238Arg |