Linked Data
ClinVar Variation Id:
1580574
ClinVar RCV Id:
RCV002085874
dbSNP Id:
rs770173089
gnomAD v2:
1-229568045-A-G
gnomAD v3:
1-229432298-A-G
gnomAD v4:
1-229432298-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432298A>G , CM000663.2:g.229432298A>G | GRCh38 |
| NC_000001.10:g.229568045A>G , CM000663.1:g.229568045A>G | GRCh37 |
| NC_000001.9:g.227634668A>G | NCBI36 |
| NG_006672.1:g.6799T>C , LRG_429:g.6799T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.588T>C | ENSP00000355644.4:p.Thr196= | |
| ENST00000684723.1:c.453T>C | ENSP00000508084.1:p.Thr151= | |
| ENST00000366683.3:c.479+109T>C | ENSP00000355644.3:n.479+109T>C | |
| ENST00000366684.7:c.588T>C MANE Select | ENSP00000355645.3:p.Thr196= | |
| NM_001100.3:c.588T>C , LRG_429t1:c.588T>C | NP_001091.1:p.Thr196= | |
| NM_001100.4:c.588T>C MANE Select | NP_001091.1:p.Thr196= |