Linked Data
ClinVar Variation Id:
18287
ClinVar RCV Id:
RCV003148622
dbSNP Id:
rs121909527
PubMed:
PMID:15520409
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229433109C>A , CM000663.2:g.229433109C>A | GRCh38 |
| NC_000001.10:g.229568856C>A , CM000663.1:g.229568856C>A | GRCh37 |
| NC_000001.9:g.227635479C>A | NCBI36 |
| NG_006672.1:g.5988G>T , LRG_429:g.5988G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366683.4:c.7G>T | ENSP00000355644.4:p.Asp3Tyr | |
| ENST00000684723.1:c.-6-229G>T | ENSP00000508084.1:n.-6-229G>T | |
| ENST00000366683.3:c.7G>T | ENSP00000355644.3:p.Asp3Tyr | |
| ENST00000366684.7:c.7G>T MANE Select | ENSP00000355645.3:p.Asp3Tyr | |
| NM_001100.3:c.7G>T , LRG_429t1:c.7G>T | NP_001091.1:p.Asp3Tyr | |
| NM_001100.4:c.7G>T MANE Select | NP_001091.1:p.Asp3Tyr |