Linked Data
ClinVar Variation Id:
1494177
ClinVar RCV Id:
RCV002012815
dbSNP Id:
rs2135899812
gnomAD v4:
11-70206156-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70206156A>G , CM000673.2:g.70206156A>G | GRCh38 |
| NC_000011.9:g.70052262A>G , CM000673.1:g.70052262A>G | GRCh37 |
| NC_000011.8:g.69729910A>G | NCBI36 |
| NG_027966.1:g.7994A>G , LRG_228:g.7994A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301838.5:c.310A>G MANE Select | ENSP00000301838.5:p.Ile104Val | |
| ENST00000301838.4:c.310A>G | ENSP00000301838.4:p.Ile104Val | |
| NM_003824.3:c.310A>G , LRG_228t1:c.310A>G | NP_003815.1:p.Ile104Val | |
| NM_003824.4:c.310A>G MANE Select | NP_003815.1:p.Ile104Val |