Linked Data
ClinVar Variation Id:
11403
ClinVar RCV Id:
RCV000012156
dbSNP Id:
rs122468177
PubMed:
PMID:19361614
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21845207G>A , CM000685.2:g.21845207G>A | GRCh38 |
| NC_000023.10:g.21863325G>A , CM000685.1:g.21863325G>A | GRCh37 |
| NC_000023.9:g.21773246G>A | NCBI36 |
| NG_012797.1:g.10670G>A | |
| NG_012797.2:g.10670G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379484.10:c.261G>A MANE Select | ENSP00000368798.5:p.Met87Ile | |
| ENST00000365779.2:c.261G>A | ENSP00000368796.1:p.Met87Ile | |
| ENST00000379484.9:c.261G>A | ENSP00000368798.5:p.Met87Ile | |
| ENST00000465888.1:n.360G>A | ||
| NM_015884.3:c.261G>A | NP_056968.1:p.Met87Ile | |
| NM_015884.4:c.261G>A MANE Select | NP_056968.1:p.Met87Ile |