Linked Data
ClinVar Variation Id:
427749
ClinVar RCV Id:
RCV000490646
dbSNP Id:
rs1114167433
PubMed:
PMID:21972112
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26607934G>T , CM000684.2:g.26607934G>T | GRCh38 |
| NC_000022.10:g.27003898G>T , CM000684.1:g.27003898G>T | GRCh37 |
| NC_000022.9:g.25333898G>T | NCBI36 |
| NG_009826.1:g.15094C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647569.1:n.199C>A | ||
| ENST00000647684.1:c.387C>A MANE Select | ENSP00000497249.1:p.Ser129Arg | |
| ENST00000215939.2:c.387C>A | ENSP00000215939.2:p.Ser129Arg | |
| NM_001887.3:c.387C>A | NP_001878.1:p.Ser129Arg | |
| XM_011529899.1:c.387C>A | XP_011528201.1:p.Ser129Arg | |
| NM_001887.4:c.387C>A MANE Select | NP_001878.1:p.Ser129Arg | |
| XM_011529899.3:c.387C>A | XP_011528201.1:p.Ser129Arg |