Linked Data
ClinVar Variation Id:
13487
ClinVar RCV Id:
RCV000014431
dbSNP Id:
rs104894355
PubMed:
PMID:11026449
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912588G>A , CM000674.2:g.4912588G>A | GRCh38 |
| NC_000012.11:g.5021754G>A , CM000674.1:g.5021754G>A | GRCh37 |
| NC_000012.10:g.4892015G>A | NCBI36 |
| NG_011815.1:g.7682G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382545.5:c.1210G>A MANE Select | ENSP00000371985.3:p.Val404Ile | |
| ENST00000543874.3:n.105+2116G>A | ||
| ENST00000639306.1:c.1048G>A | ENSP00000492506.1:p.Val350Ile | |
| ENST00000639680.1:c.76+322G>A | ||
| ENST00000382545.3:c.1210G>A | ENSP00000371985.3:p.Val404Ile | |
| ENST00000541095.1:n.105+2116G>A | ||
| ENST00000543874.2:n.96+2116G>A | ||
| NM_000217.2:c.1210G>A | NP_000208.2:p.Val404Ile | |
| NM_000217.3:c.1210G>A MANE Select | NP_000208.2:p.Val404Ile |