Linked Data
dbSNP Id:
rs777348742
gnomAD v3:
8-132175528-G-C
gnomAD v4:
8-132175528-G-C
MyVariant Identifiers:
chr8:g.133187775G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132175528G>C , CM000670.2:g.132175528G>C | GRCh38 |
| NC_000008.10:g.133187775G>C , CM000670.1:g.133187775G>C | GRCh37 |
| NC_000008.9:g.133256957G>C | NCBI36 |
| NG_008854.2:g.310230C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388996.10:c.858C>G MANE Select | ENSP00000373648.3:p.Val286= | |
| ENST00000521134.6:c.498C>G | ENSP00000429799.1:p.Val166= | |
| ENST00000638588.1:c.531C>G | ENSP00000491940.1:p.Val177= | |
| ENST00000639358.1:c.508C>G | ||
| ENST00000639496.1:c.531C>G | ENSP00000491165.1:p.Val177= | |
| ENST00000388996.8:c.858C>G | ENSP00000373648.3:p.Val286= | |
| ENST00000519445.5:c.858C>G | ENSP00000428790.1:p.Val286= | |
| ENST00000519589.1:n.636C>G | ||
| ENST00000521134.5:c.498C>G | ENSP00000429799.1:p.Val166= | |
| ENST00000621976.1:c.495C>G | ENSP00000482510.1:p.Val165= | |
| NM_001204824.1:c.498C>G | NP_001191753.1:p.Val166= | |
| NM_004519.3:c.858C>G | NP_004510.1:p.Val286= | |
| XM_005250914.2:c.-299C>G | XP_005250971.1:n.-299C>G | |
| XM_006716555.2:c.150C>G | XP_006716618.1:p.Val50= | |
| XM_011517026.1:c.498C>G | XP_011515328.1:p.Val166= | |
| XM_005250914.3:c.-299C>G | XP_005250971.1:n.-299C>G | |
| XM_006716555.3:c.150C>G | XP_006716618.1:p.Val50= | |
| XM_011517026.2:c.498C>G | XP_011515328.1:p.Val166= | |
| XM_017013400.1:c.636C>G | XP_016868889.1:p.Val212= | |
| NM_004519.4:c.858C>G MANE Select | NP_004510.1:p.Val286= | |
| NM_001204824.2:c.498C>G | NP_001191753.1:p.Val166= |