Linked Data
gnomAD v4:
12-57450178-A-AGAAAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57450179_57450183dup , CM000674.2:g.57450179_57450183dup | GRCh38 |
| NC_000012.11:g.57843962_57843966dup , CM000674.1:g.57843962_57843966dup | GRCh37 |
| NC_000012.10:g.56130229_56130233dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309668.3:c.*157_*161dup MANE Select | ENSP00000308716.2:n.*157_*161dup | |
| ENST00000309668.2:c.*157_*161dup | ENSP00000308716.2:n.*157_*161dup | |
| NM_005538.3:c.*157_*161dup | NP_005529.1:n.*157_*161dup | |
| NM_005538.4:c.*157_*161dup MANE Select | NP_005529.1:n.*157_*161dup |