Linked Data
ClinVar Variation Id:
4249
ClinVar RCV Id:
RCV000004471
dbSNP Id:
rs121908103
PubMed:
PMID:18724368
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.50036982A>C , CM000680.2:g.50036982A>C | GRCh38 |
| NC_000018.9:g.47563352A>C , CM000680.1:g.47563352A>C | GRCh37 |
| NC_000018.8:g.45817350A>C | NCBI36 |
| NG_012925.1:g.163100T>G | |
| NG_012925.2:g.163100T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697219.1:c.120T>G | ||
| ENST00000697221.1:n.694T>G | ||
| ENST00000285039.12:c.323T>G MANE Select | ENSP00000285039.6:p.Val108Gly | |
| ENST00000285039.11:c.323T>G | ENSP00000285039.6:p.Val108Gly | |
| ENST00000616031.4:c.320T>G | ENSP00000479038.1:p.Val107Gly | |
| NM_001080467.2:c.323T>G | NP_001073936.1:p.Val108Gly | |
| NM_001080467.3:c.323T>G MANE Select | NP_001073936.1:p.Val108Gly |