Linked Data
ClinVar Variation Id:
263202
dbSNP Id:
rs191270495
ExAC:
1:976554 C / G
gnomAD v2:
1-976554-C-G
gnomAD v3:
1-1041174-C-G
gnomAD v4:
1-1041174-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1041174C>G , CM000663.2:g.1041174C>G | GRCh38 |
| NC_000001.10:g.976554C>G , CM000663.1:g.976554C>G | GRCh37 |
| NC_000001.9:g.966417C>G | NCBI36 |
| NG_016346.1:g.26052C>G , LRG_198:g.26052C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.729C>G MANE Select | ENSP00000368678.2:p.Gly243= | |
| ENST00000651234.1:c.414C>G | ENSP00000499046.1:p.Gly138= | |
| ENST00000652369.1:c.414C>G | ENSP00000498543.1:p.Gly138= | |
| ENST00000379370.6:c.729C>G | ENSP00000368678.2:p.Gly243= | |
| ENST00000469403.1:n.676C>G | ||
| ENST00000620552.4:c.315C>G | ENSP00000484607.1:p.Gly105= | |
| NM_001305275.1:c.729C>G | NP_001292204.1:p.Gly243= | |
| NM_198576.3:c.729C>G | NP_940978.2:p.Gly243= | |
| XM_005244749.2:c.729C>G | XP_005244806.1:p.Gly243= | |
| XM_006710635.2:c.729C>G | XP_006710698.1:p.Gly243= | |
| XM_011541429.1:c.729C>G | XP_011539731.1:p.Gly243= | |
| XM_011541430.1:c.512-2065C>G | XP_011539732.1:n.512-2065C>G | |
| XR_946650.1:n.796C>G | ||
| NM_001364727.1:c.414C>G | NP_001351656.1:p.Gly138= | |
| XM_005244749.3:c.729C>G | XP_005244806.1:p.Gly243= | |
| XM_011541429.2:c.729C>G | XP_011539731.1:p.Gly243= | |
| XR_946650.2:n.800C>G | ||
| NM_001305275.2:c.729C>G | NP_001292204.1:p.Gly243= | |
| NM_198576.4:c.729C>G MANE Select | NP_940978.2:p.Gly243= | |
| NM_001364727.2:c.414C>G | NP_001351656.1:p.Gly138= |