Linked Data
ClinVar Variation Id:
9952
ClinVar RCV Id:
RCV000010630
dbSNP Id:
rs137852536
PubMed:
PMID:16412025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78113767T>A , CM000685.2:g.78113767T>A | GRCh38 |
| NC_000023.10:g.77369264T>A , CM000685.1:g.77369264T>A | GRCh37 |
| NC_000023.9:g.77255920T>A | NCBI36 |
| NG_008862.1:g.14599T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373316.5:c.140T>A MANE Select | ENSP00000362413.4:p.Ile47Asn | |
| ENST00000644362.1:c.56T>A | ENSP00000496140.1:p.Ile19Asn | |
| ENST00000373316.4:c.140T>A | ENSP00000362413.4:p.Ile47Asn | |
| ENST00000477335.5:n.276T>A | ||
| ENST00000491291.1:n.132T>A | ||
| NM_000291.3:c.140T>A | NP_000282.1:p.Ile47Asn | |
| NM_000291.4:c.140T>A MANE Select | NP_000282.1:p.Ile47Asn |