Linked Data
ClinVar Variation Id:
1044612
ClinVar RCV Id:
RCV001348880
dbSNP Id:
rs1874873096
gnomAD v4:
12-102846917-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846917T>A , CM000674.2:g.102846917T>A | GRCh38 |
| NC_000012.11:g.103240695T>A , CM000674.1:g.103240695T>A | GRCh37 |
| NC_000012.10:g.101764825T>A | NCBI36 |
| NG_008690.1:g.75686A>T | |
| NG_008690.2:g.116494A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.947A>T MANE Select | ENSP00000448059.1:p.Glu316Val | |
| ENST00000307000.7:c.932A>T | ENSP00000303500.2:p.Glu311Val | |
| ENST00000549247.6:n.706A>T | ||
| ENST00000551114.2:n.609A>T | ||
| ENST00000553106.5:c.947A>T | ENSP00000448059.1:p.Glu316Val | |
| ENST00000635477.1:c.74-2486A>T | ||
| ENST00000635528.1:n.462A>T | ||
| NM_000277.1:c.947A>T | NP_000268.1:p.Glu316Val | |
| XM_011538422.1:c.913-2486A>T | XP_011536724.1:n.913-2486A>T | |
| NM_000277.2:c.947A>T | NP_000268.1:p.Glu316Val | |
| NM_001354304.1:c.947A>T | NP_001341233.1:p.Glu316Val | |
| NM_000277.3:c.947A>T MANE Select | NP_000268.1:p.Glu316Val | |
| NM_001354304.2:c.947A>T | NP_001341233.1:p.Glu316Val |