Linked Data
ClinVar Variation Id:
971493
dbSNP Id:
rs375787769
gnomAD v2:
16-1412882-C-G
gnomAD v3:
16-1362881-C-G
gnomAD v4:
16-1362881-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362881C>G , CM000678.2:g.1362881C>G | GRCh38 |
| NC_000016.9:g.1412882C>G , CM000678.1:g.1412882C>G | GRCh37 |
| NC_000016.8:g.1352883C>G | NCBI36 |
| NG_016985.1:g.15983C>G | |
| NG_033129.1:g.56824G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.897C>G | ||
| ENST00000529110.2:c.882C>G | ENSP00000435349.2:p.His294Gln | |
| ENST00000529957.6:n.856C>G | ||
| ENST00000683366.1:c.*530C>G | ENSP00000507283.1:n.*530C>G | |
| ENST00000683887.1:c.846C>G | ENSP00000506886.1:p.His282Gln | |
| ENST00000684100.1:n.792C>G | ||
| ENST00000684126.1:n.932C>G | ||
| ENST00000684688.1:n.1423C>G | ||
| ENST00000204679.9:c.798C>G MANE Select | ENSP00000204679.4:p.His266Gln | |
| ENST00000204679.8:c.798C>G | ENSP00000204679.4:p.His266Gln | |
| ENST00000527076.1:n.2021C>G | ||
| ENST00000527168.5:n.965C>G | ||
| ENST00000529957.5:n.897C>G | ||
| NM_032520.4:c.798C>G | NP_115909.1:p.His266Gln | |
| XM_017023782.1:c.846C>G | XP_016879271.1:p.His282Gln | |
| XM_017023783.1:c.438C>G | XP_016879272.1:p.His146Gln | |
| NM_032520.5:c.798C>G MANE Select | NP_115909.1:p.His266Gln |