Linked Data
dbSNP Id:
rs749491778
ExAC:
10:81317124 T / C
gnomAD v2:
10-81317124-T-C
gnomAD v4:
10-79557368-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.79557368T>C , CM000672.2:g.79557368T>C | GRCh38 |
| NC_000010.10:g.81317124T>C , CM000672.1:g.81317124T>C | GRCh37 |
| NG_013046.1:g.8040A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372325.7:c.588A>G MANE Select | ENSP00000361400.2:p.Gly196= | |
| ENST00000372325.6:c.588A>G | ENSP00000361400.2:p.Gly196= | |
| ENST00000372327.9:c.588A>G | ENSP00000361402.5:p.Gly196= | |
| NM_001098668.2:c.588A>G | NP_001092138.1:p.Gly196= | |
| XM_005270128.2:c.639A>G | XP_005270185.1:p.Gly213= | |
| XM_005270131.3:c.588A>G | XP_005270188.1:p.Gly196= | |
| XM_005270132.3:c.588A>G | XP_005270189.1:p.Gly196= | |
| XM_011540124.1:c.588A>G | XP_011538426.1:p.Gly196= | |
| XM_011540125.1:c.588A>G | XP_011538427.1:p.Gly196= | |
| NM_001098668.3:c.588A>G | NP_001092138.1:p.Gly196= | |
| NM_001320813.1:c.588A>G | NP_001307742.1:p.Gly196= | |
| NM_001320814.1:c.618A>G | NP_001307743.1:p.Gly206= | |
| XM_005270128.3:c.639A>G | XP_005270185.1:p.Gly213= | |
| XM_017016608.1:c.588A>G | XP_016872097.1:p.Gly196= | |
| NM_001098668.4:c.588A>G MANE Select | NP_001092138.1:p.Gly196= | |
| NM_001320813.2:c.588A>G | NP_001307742.1:p.Gly196= |