Linked Data
dbSNP Id:
rs1044104
gnomAD v2:
6-7881311-A-G
gnomAD v3:
6-7881078-A-G
gnomAD v4:
6-7881078-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7881078A>G , CM000668.2:g.7881078A>G | GRCh38 |
| NC_000006.11:g.7881311A>G , CM000668.1:g.7881311A>G | GRCh37 |
| NC_000006.10:g.7826310A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000283147.7:c.*735A>G MANE Select | ENSP00000283147.6:n.*735A>G | |
| ENST00000283147.6:c.*735A>G | ENSP00000283147.6:n.*735A>G | |
| NM_001718.4:c.*735A>G | NP_001709.1:n.*735A>G | |
| NM_001718.5:c.*735A>G | NP_001709.1:n.*735A>G | |
| NM_001718.6:c.*735A>G MANE Select | NP_001709.1:n.*735A>G |