Linked Data
ClinVar Variation Id:
3137907
ClinVar RCV Id:
RCV004430219
dbSNP Id:
rs1287700354
gnomAD v4:
11-6319479-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319479T>G , CM000673.2:g.6319479T>G | GRCh38 |
| NC_000011.9:g.6340709T>G , CM000673.1:g.6340709T>G | GRCh37 |
| NC_000011.8:g.6297285T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.470A>C MANE Select | ENSP00000307292.3:p.Gln157Pro | |
| ENST00000303927.3:c.470A>C | ENSP00000307292.3:p.Gln157Pro | |
| ENST00000524852.1:n.256A>C | ||
| ENST00000530979.1:c.566A>C | ENSP00000432047.1:p.Gln189Pro | |
| ENST00000532354.1:n.492A>C | ||
| NM_145040.2:c.470A>C | NP_659477.2:p.Gln157Pro | |
| XR_930997.1:n.720+1259T>G | ||
| XR_001748106.1:n.90T>G | ||
| XR_242848.4:n.339T>G | ||
| NM_145040.3:c.470A>C MANE Select | NP_659477.2:p.Gln157Pro |