Linked Data
dbSNP Id:
rs9505298
gnomAD v2:
6-7881449-G-A
gnomAD v3:
6-7881216-G-A
gnomAD v4:
6-7881216-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7881216G>A , CM000668.2:g.7881216G>A | GRCh38 |
| NC_000006.11:g.7881449G>A , CM000668.1:g.7881449G>A | GRCh37 |
| NC_000006.10:g.7826448G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283147.7:c.*873G>A MANE Select | ENSP00000283147.6:n.*873G>A | |
| ENST00000283147.6:c.*873G>A | ENSP00000283147.6:n.*873G>A | |
| NM_001718.4:c.*873G>A | NP_001709.1:n.*873G>A | |
| NM_001718.5:c.*873G>A | NP_001709.1:n.*873G>A | |
| NM_001718.6:c.*873G>A MANE Select | NP_001709.1:n.*873G>A |