Linked Data
ClinVar Variation Id:
6687
ClinVar RCV Id:
RCV000007075
dbSNP Id:
rs121908951
gnomAD v4:
10-87709311-C-G
PubMed:
PMID:19474428
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87709311C>G , CM000672.2:g.87709311C>G | GRCh38 |
| NC_000010.10:g.89469068C>G , CM000672.1:g.89469068C>G | GRCh37 |
| NC_000010.9:g.89459048C>G | NCBI36 |
| NG_012150.1:g.54593C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.143C>G MANE Select | ENSP00000406157.1:p.Thr48Arg | |
| ENST00000361175.8:c.143C>G | ENSP00000354436.4:p.Thr48Arg | |
| ENST00000456849.1:c.143C>G | ENSP00000406157.1:p.Thr48Arg | |
| ENST00000465996.5:n.165C>G | ||
| ENST00000482258.1:n.186C>G | ||
| NM_001015880.1:c.143C>G | NP_001015880.1:p.Thr48Arg | |
| NM_004670.3:c.143C>G | NP_004661.2:p.Thr48Arg | |
| NM_001015880.2:c.143C>G MANE Select | NP_001015880.1:p.Thr48Arg | |
| NM_004670.4:c.143C>G | NP_004661.2:p.Thr48Arg |