Linked Data
ClinVar Variation Id:
18283
dbSNP Id:
rs121909523
gnomAD v2:
1-229567767-T-A
gnomAD v4:
1-229432020-T-A
PubMed:
PMID:10508519
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432020T>A , CM000663.2:g.229432020T>A | GRCh38 |
| NC_000001.10:g.229567767T>A , CM000663.1:g.229567767T>A | GRCh37 |
| NC_000001.9:g.227634390T>A | NCBI36 |
| NG_006672.1:g.7077A>T , LRG_429:g.7077A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366683.4:c.782A>T | ENSP00000355644.4:p.Glu261Val | |
| ENST00000684723.1:c.647A>T | ENSP00000508084.1:p.Glu216Val | |
| ENST00000366683.3:c.480-158A>T | ENSP00000355644.3:n.480-158A>T | |
| ENST00000366684.7:c.782A>T MANE Select | ENSP00000355645.3:p.Glu261Val | |
| NM_001100.3:c.782A>T , LRG_429t1:c.782A>T | NP_001091.1:p.Glu261Val | |
| NM_001100.4:c.782A>T MANE Select | NP_001091.1:p.Glu261Val |