Linked Data
ClinVar Variation Id:
34
dbSNP Id:
rs267606764
ExAC:
10:99361682 T / G
gnomAD v2:
10-99361682-T-G
gnomAD v3:
10-97601925-T-G
gnomAD v4:
10-97601925-T-G
PubMed:
PMID:20797690
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97601925T>G , CM000672.2:g.97601925T>G | GRCh38 |
| NC_000010.10:g.99361682T>G , CM000672.1:g.99361682T>G | GRCh37 |
| NC_000010.9:g.99351672T>G | NCBI36 |
| NG_027922.1:g.22581T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370646.9:c.769T>G MANE Select | ENSP00000359680.4:p.Cys257Gly | |
| ENST00000370642.4:c.179T>G | ||
| ENST00000370646.8:c.769T>G | ENSP00000359680.4:p.Cys257Gly | |
| ENST00000370647.8:c.280T>G | ENSP00000359681.4:p.Cys94Gly | |
| ENST00000370649.3:c.280T>G | ENSP00000359683.3:p.Cys94Gly | |
| NM_001134670.1:c.280T>G | NP_001128142.1:p.Cys94Gly | |
| NM_138413.3:c.769T>G | NP_612422.2:p.Cys257Gly | |
| NM_138413.4:c.769T>G MANE Select | NP_612422.2:p.Cys257Gly | |
| NM_001134670.2:c.280T>G | NP_001128142.1:p.Cys94Gly |