Linked Data
gnomAD v4:
12-52520416-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520421dup , CM000674.2:g.52520421dup | GRCh38 |
| NC_000012.11:g.52914205dup , CM000674.1:g.52914205dup | GRCh37 |
| NC_000012.10:g.51200472dup | NCBI36 |
| NG_008297.1:g.5043dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.8:c.-121dup | ENSP00000252242.4:n.-121dup | |
| ENST00000546577.1:c.-33dup | ENSP00000449651.1:n.-33dup | |
| NM_000424.3:c.-121dup | NP_000415.2:n.-121dup |