Linked Data
ClinVar Variation Id:
2078
ClinVar RCV Id:
RCV000002159
dbSNP Id:
rs75469429
PubMed:
PMID:19056803
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228157866C>G , CM000663.2:g.228157866C>G | GRCh38 |
| NC_000001.10:g.228345567C>G , CM000663.1:g.228345567C>G | GRCh37 |
| NC_000001.9:g.226412190C>G | NCBI36 |
| NG_011838.1:g.13015C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366714.3:c.108C>G MANE Select | ENSP00000355675.2:p.Ile36Met | |
| ENST00000366714.2:c.108C>G | ENSP00000355675.2:p.Ile36Met | |
| NM_020435.3:c.108C>G | NP_065168.2:p.Ile36Met | |
| NM_020435.4:c.108C>G MANE Select | NP_065168.2:p.Ile36Met |