Linked Data
ClinVar Variation Id:
15344
ClinVar RCV Id:
RCV000016587
dbSNP Id:
rs33968721
PubMed:
PMID:5545125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226948C>A , CM000673.2:g.5226948C>A | GRCh38 |
| NC_000011.9:g.5248178C>A , CM000673.1:g.5248178C>A | GRCh37 |
| NC_000011.8:g.5204754C>A | NCBI36 |
| NG_000007.3:g.70668G>T | |
| NG_059281.1:g.5124G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.74G>T | ENSP00000494175.1:p.Gly25Val | |
| ENST00000335295.4:c.74G>T MANE Select | ENSP00000333994.3:p.Gly25Val | |
| ENST00000380315.2:c.74G>T | ENSP00000369671.2:p.Gly25Val | |
| ENST00000485743.1:n.125G>T | ||
| ENST00000633227.1:c.74G>T | ENSP00000488004.1:p.Gly25Val | |
| NM_000518.4:c.74G>T | NP_000509.1:p.Gly25Val | |
| NM_000518.5:c.74G>T MANE Select | NP_000509.1:p.Gly25Val |