Linked Data
ClinVar Variation Id:
66234
dbSNP Id:
rs11170164
ExAC:
12:52913668 C / T
gnomAD v2:
12-52913668-C-T
gnomAD v3:
12-52519884-C-T
gnomAD v4:
12-52519884-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519884C>T , CM000674.2:g.52519884C>T | GRCh38 |
| NC_000012.11:g.52913668C>T , CM000674.1:g.52913668C>T | GRCh37 |
| NC_000012.10:g.51199935C>T | NCBI36 |
| NG_008297.1:g.5576G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252242.9:c.413G>A MANE Select | ENSP00000252242.4:p.Gly138Glu | |
| ENST00000252242.8:c.413G>A | ENSP00000252242.4:p.Gly138Glu | |
| ENST00000549420.1:c.83G>A | ENSP00000447209.1:p.Gly28Glu | |
| ENST00000551275.1:c.308G>A | ENSP00000448041.1:p.Gly103Glu | |
| ENST00000552629.5:n.511G>A | ||
| NM_000424.3:c.413G>A | NP_000415.2:p.Gly138Glu | |
| NM_000424.4:c.413G>A MANE Select | NP_000415.2:p.Gly138Glu |