Linked Data
ClinVar Variation Id:
402880
ClinVar RCV Id:
RCV000456047
dbSNP Id:
rs75987380
ExAC:
10:135440214 G / C
gnomAD v2:
10-135440214-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133626710G>C , CM000672.2:g.133626710G>C | GRCh38 |
| NC_000010.10:g.135440214G>C , CM000672.1:g.135440214G>C | GRCh37 |
| NC_000010.9:g.135290204G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425520.2:c.33C>G MANE Select | ENSP00000401310.1:p.His11Gln | |
| ENST00000425520.1:c.33C>G | ENSP00000401310.1:p.His11Gln | |
| ENST00000443774.5:c.33C>G | ENSP00000408343.1:p.His11Gln | |
| NM_001080998.1:c.33C>G | NP_001074467.1:p.His11Gln | |
| XM_011539819.1:c.33C>G | XP_011538121.1:p.His11Gln | |
| XM_011539820.1:c.33C>G | XP_011538122.1:p.His11Gln | |
| XM_011539821.1:c.33C>G | XP_011538123.1:p.His11Gln | |
| NM_001080998.2:c.33C>G MANE Select | NP_001074467.1:p.His11Gln |