Linked Data
ClinVar Variation Id:
268215
ClinVar RCV Id:
RCV000258921
dbSNP Id:
rs886041099
PubMed:
PMID:20301665
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818784T>A , CM000671.2:g.129818784T>A | GRCh38 |
| NC_000009.11:g.132581063T>A , CM000671.1:g.132581063T>A | GRCh37 |
| NC_000009.10:g.131620884T>A | NCBI36 |
| NG_008049.1:g.10379A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.581A>T MANE Select | ENSP00000345719.4:p.Asp194Val | |
| ENST00000651202.1:c.677A>T | ENSP00000498222.1:p.Asp226Val | |
| ENST00000351698.4:c.581A>T | ENSP00000345719.4:p.Asp194Val | |
| ENST00000473604.2:n.691A>T | ||
| NM_000113.2:c.581A>T | NP_000104.1:p.Asp194Val | |
| XR_929731.1:n.741A>T | ||
| XR_929731.3:n.609A>T | ||
| NM_000113.3:c.581A>T MANE Select | NP_000104.1:p.Asp194Val |