Linked Data
ClinVar Variation Id:
128295
dbSNP Id:
rs75774767
ExAC:
1:980773 C / T
gnomAD v2:
1-980773-C-T
gnomAD v3:
1-1045393-C-T
gnomAD v4:
1-1045393-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1045393C>T , CM000663.2:g.1045393C>T | GRCh38 |
| NC_000001.10:g.980773C>T , CM000663.1:g.980773C>T | GRCh37 |
| NC_000001.9:g.970636C>T | NCBI36 |
| NG_016346.1:g.30271C>T , LRG_198:g.30271C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.2406C>T MANE Select | ENSP00000368678.2:p.Gly802= | |
| ENST00000651234.1:c.2091C>T | ENSP00000499046.1:p.Gly697= | |
| ENST00000652369.1:c.2091C>T | ENSP00000498543.1:p.Gly697= | |
| ENST00000379370.6:c.2406C>T | ENSP00000368678.2:p.Gly802= | |
| ENST00000620552.4:c.1992C>T | ENSP00000484607.1:p.Gly664= | |
| NM_001305275.1:c.2406C>T | NP_001292204.1:p.Gly802= | |
| NM_198576.3:c.2406C>T | NP_940978.2:p.Gly802= | |
| XM_005244749.2:c.2406C>T | XP_005244806.1:p.Gly802= | |
| XM_006710635.2:c.2406C>T | XP_006710698.1:p.Gly802= | |
| XM_011541429.1:c.2406C>T | XP_011539731.1:p.Gly802= | |
| XM_011541430.1:c.1533C>T | XP_011539732.1:p.Gly511= | |
| XM_011541431.1:c.672C>T | XP_011539733.1:p.Gly224= | |
| XR_946650.1:n.2473C>T | ||
| NM_001364727.1:c.2091C>T | NP_001351656.1:p.Gly697= | |
| XM_005244749.3:c.2406C>T | XP_005244806.1:p.Gly802= | |
| XM_011541429.2:c.2406C>T | XP_011539731.1:p.Gly802= | |
| XR_946650.2:n.2477C>T | ||
| NM_001305275.2:c.2406C>T | NP_001292204.1:p.Gly802= | |
| NM_198576.4:c.2406C>T MANE Select | NP_940978.2:p.Gly802= | |
| NM_001364727.2:c.2091C>T | NP_001351656.1:p.Gly697= |