Linked Data
ClinVar Variation Id:
1436015
ClinVar RCV Id:
RCV001974670
dbSNP Id:
rs2136639547
gnomAD v4:
12-102846914-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846914T>C , CM000674.2:g.102846914T>C | GRCh38 |
| NC_000012.11:g.103240692T>C , CM000674.1:g.103240692T>C | GRCh37 |
| NC_000012.10:g.101764822T>C | NCBI36 |
| NG_008690.1:g.75689A>G | |
| NG_008690.2:g.116497A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.950A>G MANE Select | ENSP00000448059.1:p.Tyr317Cys | |
| ENST00000307000.7:c.935A>G | ENSP00000303500.2:p.Tyr312Cys | |
| ENST00000549247.6:n.709A>G | ||
| ENST00000551114.2:n.612A>G | ||
| ENST00000553106.5:c.950A>G | ENSP00000448059.1:p.Tyr317Cys | |
| ENST00000635477.1:c.74-2483A>G | ||
| ENST00000635528.1:n.465A>G | ||
| NM_000277.1:c.950A>G | NP_000268.1:p.Tyr317Cys | |
| XM_011538422.1:c.913-2483A>G | XP_011536724.1:n.913-2483A>G | |
| NM_000277.2:c.950A>G | NP_000268.1:p.Tyr317Cys | |
| NM_001354304.1:c.950A>G | NP_001341233.1:p.Tyr317Cys | |
| NM_000277.3:c.950A>G MANE Select | NP_000268.1:p.Tyr317Cys | |
| NM_001354304.2:c.950A>G | NP_001341233.1:p.Tyr317Cys |