Linked Data
ClinVar Variation Id:
128296
dbSNP Id:
rs6657048
ExAC:
1:957640 C / T
gnomAD v2:
1-957640-C-T
gnomAD v3:
1-1022260-C-T
gnomAD v4:
1-1022260-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1022260C>T , CM000663.2:g.1022260C>T | GRCh38 |
| NC_000001.10:g.957640C>T , CM000663.1:g.957640C>T | GRCh37 |
| NC_000001.9:g.947503C>T | NCBI36 |
| NG_016346.1:g.7138C>T , LRG_198:g.7138C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.261C>T MANE Select | ENSP00000368678.2:p.Asp87= | |
| ENST00000379370.6:c.261C>T | ENSP00000368678.2:p.Asp87= | |
| ENST00000620552.4:c.-154C>T | ENSP00000484607.1:n.-154C>T | |
| NM_001305275.1:c.261C>T | NP_001292204.1:p.Asp87= | |
| NM_198576.3:c.261C>T | NP_940978.2:p.Asp87= | |
| XM_005244749.2:c.261C>T | XP_005244806.1:p.Asp87= | |
| XM_006710635.2:c.261C>T | XP_006710698.1:p.Asp87= | |
| XM_011541429.1:c.261C>T | XP_011539731.1:p.Asp87= | |
| XM_011541430.1:c.261C>T | XP_011539732.1:p.Asp87= | |
| XR_946650.1:n.328C>T | ||
| XM_005244749.3:c.261C>T | XP_005244806.1:p.Asp87= | |
| XM_011541429.2:c.261C>T | XP_011539731.1:p.Asp87= | |
| XR_946650.2:n.332C>T | ||
| NM_001305275.2:c.261C>T | NP_001292204.1:p.Asp87= | |
| NM_198576.4:c.261C>T MANE Select | NP_940978.2:p.Asp87= |