Linked Data
ClinVar Variation Id:
2302143
ClinVar RCV Id:
RCV002869270
dbSNP Id:
rs770438720
ExAC:
1:209968708 A / T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209795363A>T , CM000663.2:g.209795363A>T | GRCh38 |
| NC_000001.10:g.209968708A>T , CM000663.1:g.209968708A>T | GRCh37 |
| NC_000001.9:g.208035331A>T | NCBI36 |
| NG_007081.2:g.15772T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696133.1:c.435T>A | ENSP00000512426.1:p.Asp145Glu | |
| ENST00000696134.1:c.435T>A | ENSP00000512427.1:p.Asp145Glu | |
| ENST00000367021.8:c.435T>A MANE Select | ENSP00000355988.3:p.Asp145Glu | |
| ENST00000643798.1:c.435T>A | ENSP00000496669.1:p.Asp145Glu | |
| ENST00000367021.7:c.435T>A | ENSP00000355988.3:p.Asp145Glu | |
| ENST00000456314.1:c.435T>A | ENSP00000403855.1:p.Asp145Glu | |
| ENST00000542854.5:c.150T>A | ENSP00000440532.1:p.Asp50Glu | |
| NM_001206696.1:c.150T>A | NP_001193625.1:p.Asp50Glu | |
| NM_006147.3:c.435T>A | NP_006138.1:p.Asp145Glu | |
| NM_006147.4:c.435T>A MANE Select | NP_006138.1:p.Asp145Glu | |
| NM_001206696.2:c.150T>A | NP_001193625.1:p.Asp50Glu |