Linked Data
ClinVar Variation Id:
9953
ClinVar RCV Id:
RCV000010631
dbSNP Id:
rs137852537
PubMed:
PMID:16412025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78124896G>A , CM000685.2:g.78124896G>A | GRCh38 |
| NC_000023.10:g.77380393G>A , CM000685.1:g.77380393G>A | GRCh37 |
| NC_000023.9:g.77267049G>A | NCBI36 |
| NG_008862.1:g.25728G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373316.5:c.959G>A MANE Select | ENSP00000362413.4:p.Ser320Asn | |
| ENST00000644362.1:c.875G>A | ENSP00000496140.1:p.Ser292Asn | |
| ENST00000373316.4:c.959G>A | ENSP00000362413.4:p.Ser320Asn | |
| NM_000291.3:c.959G>A | NP_000282.1:p.Ser320Asn | |
| NM_000291.4:c.959G>A MANE Select | NP_000282.1:p.Ser320Asn |