Linked Data
ClinVar Variation Id:
127137
ClinVar RCV Id:
RCV000114991
dbSNP Id:
rs587777336
ExAC:
12:5153456 A / G
gnomAD v2:
12-5153456-A-G
gnomAD v4:
12-5044290-A-G
PubMed:
PMID:23264583
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044290A>G , CM000674.2:g.5044290A>G | GRCh38 |
| NC_000012.11:g.5153456A>G , CM000674.1:g.5153456A>G | GRCh37 |
| NC_000012.10:g.5023717A>G | NCBI36 |
| NG_012198.1:g.5372A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252321.5:c.143A>G MANE Select | ENSP00000252321.3:p.Glu48Gly | |
| ENST00000252321.4:c.143A>G | ENSP00000252321.3:p.Glu48Gly | |
| NM_002234.3:c.143A>G | NP_002225.2:p.Glu48Gly | |
| NM_002234.4:c.143A>G MANE Select | NP_002225.2:p.Glu48Gly |