Linked Data
ClinVar Variation Id:
420641
dbSNP Id:
rs142956522
ExAC:
11:66114189 C / A
gnomAD v2:
11-66114189-C-A
gnomAD v3:
11-66346718-C-A
gnomAD v4:
11-66346718-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66346718C>A , CM000673.2:g.66346718C>A | GRCh38 |
| NC_000011.9:g.66114189C>A , CM000673.1:g.66114189C>A | GRCh37 |
| NC_000011.8:g.65870765C>A | NCBI36 |
| NG_033202.1:g.5973G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311181.5:c.828G>T MANE Select | ENSP00000309096.4:p.Val276= | |
| ENST00000311181.4:c.828G>T | ENSP00000309096.4:p.Val276= | |
| NM_006876.2:c.828G>T | NP_006867.1:p.Val276= | |
| NM_006876.3:c.828G>T MANE Select | NP_006867.1:p.Val276= |