Linked Data
ClinVar Variation Id:
11483
ClinVar RCV Id:
RCV000012238
dbSNP Id:
rs104894798
PubMed:
PMID:10391218
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48523858G>A , CM000685.2:g.48523858G>A | GRCh38 |
| NC_000023.10:g.48382246G>A , CM000685.1:g.48382246G>A | GRCh37 |
| NC_000023.9:g.48267190G>A | NCBI36 |
| NG_007452.1:g.7083G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000495186.6:c.87G>A MANE Select | ENSP00000417052.1:p.Trp29Ter | |
| ENST00000651615.1:c.87G>A | ENSP00000498524.1:p.Trp29Ter | |
| ENST00000276096.10:n.110-65G>A | ||
| ENST00000414061.1:c.87G>A | ENSP00000405832.1:p.Trp29Ter | |
| ENST00000446158.5:c.87G>A | ENSP00000390031.1:p.Trp29Ter | |
| ENST00000495186.5:c.87G>A | ENSP00000417052.1:p.Trp29Ter | |
| ENST00000498425.1:n.208G>A | ||
| NM_006579.2:c.87G>A | NP_006570.1:p.Trp29Ter | |
| NM_006579.3:c.87G>A MANE Select | NP_006570.1:p.Trp29Ter |