Linked Data
ClinVar Variation Id:
15615
ClinVar RCV Id:
RCV000016882
dbSNP Id:
rs33974277
gnomAD v4:
11-5226934-C-T
PubMed:
PMID:15481887
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226934C>T , CM000673.2:g.5226934C>T | GRCh38 |
| NC_000011.9:g.5248164C>T , CM000673.1:g.5248164C>T | GRCh37 |
| NC_000011.8:g.5204740C>T | NCBI36 |
| NG_000007.3:g.70682G>A | |
| NG_059281.1:g.5138G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.88G>A | ENSP00000494175.1:p.Gly30Ser | |
| ENST00000335295.4:c.88G>A MANE Select | ENSP00000333994.3:p.Gly30Ser | |
| ENST00000380315.2:c.88G>A | ENSP00000369671.2:p.Gly30Ser | |
| ENST00000485743.1:n.139G>A | ||
| ENST00000633227.1:c.76+12G>A | ENSP00000488004.1:n.76+12G>A | |
| NM_000518.4:c.88G>A | NP_000509.1:p.Gly30Ser | |
| NM_000518.5:c.88G>A MANE Select | NP_000509.1:p.Gly30Ser |