Linked Data
ClinVar Variation Id:
2037793
ClinVar RCV Id:
RCV002882296
dbSNP Id:
rs1199816356
gnomAD v2:
1-229567282-C-T
gnomAD v3:
1-229431535-C-T
gnomAD v4:
1-229431535-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431535C>T , CM000663.2:g.229431535C>T | GRCh38 |
| NC_000001.10:g.229567282C>T , CM000663.1:g.229567282C>T | GRCh37 |
| NC_000001.9:g.227633905C>T | NCBI36 |
| NG_006672.1:g.7562G>A , LRG_429:g.7562G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.1020G>A | ENSP00000355644.4:p.Glu340= | |
| ENST00000684723.1:c.963G>A | ENSP00000508084.1:p.Glu321= | |
| ENST00000366683.3:c.729G>A | ENSP00000355644.3:p.Glu243= | |
| ENST00000366684.7:c.1098G>A MANE Select | ENSP00000355645.3:p.Glu366= | |
| NM_001100.3:c.1098G>A , LRG_429t1:c.1098G>A | NP_001091.1:p.Glu366= | |
| NM_001100.4:c.1098G>A MANE Select | NP_001091.1:p.Glu366= |