Linked Data
ClinVar Variation Id:
6308
ClinVar RCV Id:
RCV000006688
dbSNP Id:
rs121908650
PubMed:
PMID:15317892
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22120459T>C , CM000663.2:g.22120459T>C | GRCh38 |
| NC_000001.10:g.22446952T>C , CM000663.1:g.22446952T>C | GRCh37 |
| NC_000001.9:g.22319539T>C | NCBI36 |
| NG_008974.1:g.27568A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290167.11:c.647A>G MANE Select | ENSP00000290167.5:p.Glu216Gly | |
| ENST00000290167.10:c.647A>G | ENSP00000290167.5:p.Glu216Gly | |
| NM_030761.4:c.647A>G | NP_110388.2:p.Glu216Gly | |
| XM_011541597.1:c.713A>G | XP_011539899.1:p.Glu238Gly | |
| XM_011541598.1:c.482A>G | XP_011539900.1:p.Glu161Gly | |
| XM_011541597.2:c.713A>G | XP_011539899.1:p.Glu238Gly | |
| XM_011541598.2:c.482A>G | XP_011539900.1:p.Glu161Gly | |
| NM_030761.5:c.647A>G MANE Select | NP_110388.2:p.Glu216Gly |