Linked Data
ClinVar Variation Id:
1078928
dbSNP Id:
rs779223226
ExAC:
11:8111729 C / T
gnomAD v2:
11-8111729-C-T
gnomAD v3:
11-8090182-C-T
gnomAD v4:
11-8090182-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8090182C>T , CM000673.2:g.8090182C>T | GRCh38 |
| NC_000011.9:g.8111729C>T , CM000673.1:g.8111729C>T | GRCh37 |
| NC_000011.8:g.8068305C>T | NCBI36 |
| NG_029912.1:g.56550C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.204C>T MANE Select | ENSP00000299506.3:p.Ala68= | |
| ENST00000299506.2:c.204C>T | ENSP00000299506.2:p.Ala68= | |
| ENST00000305253.8:c.369C>T | ENSP00000305426.4:p.Ala123= | |
| ENST00000534099.5:c.222C>T | ENSP00000434400.1:p.Ala74= | |
| NM_003320.4:c.369C>T | NP_003311.2:p.Ala123= | |
| NM_177972.2:c.204C>T | NP_813977.1:p.Ala68= | |
| XM_005253109.2:c.330C>T | XP_005253166.1:p.Ala110= | |
| XM_011520344.1:c.240C>T | XP_011518646.1:p.Ala80= | |
| XM_005253109.3:c.330C>T | XP_005253166.1:p.Ala110= | |
| XM_011520344.2:c.240C>T | XP_011518646.1:p.Ala80= | |
| NM_177972.3:c.204C>T MANE Select | NP_813977.1:p.Ala68= | |
| NM_003320.5:c.369C>T | NP_003311.2:p.Ala123= |