Linked Data
gnomAD v4:
12-52652150-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52652150T>C , CM000674.2:g.52652150T>C | GRCh38 |
| NC_000012.11:g.53045934T>C , CM000674.1:g.53045934T>C | GRCh37 |
| NC_000012.10:g.51332201T>C | NCBI36 |
| NG_008296.1:g.5026A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.-8A>G MANE Select | ENSP00000310861.3:n.-8A>G | |
| ENST00000309680.3:c.-8A>G | ENSP00000310861.3:n.-8A>G | |
| NM_000423.2:c.-8A>G | NP_000414.2:n.-8A>G | |
| NM_000423.3:c.-8A>G MANE Select | NP_000414.2:n.-8A>G |