Linked Data
gnomAD v4:
12-48981742-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981743dup , CM000674.2:g.48981743dup | GRCh38 |
| NC_000012.11:g.49375526dup , CM000674.1:g.49375526dup | GRCh37 |
| NC_000012.10:g.47661793dup | NCBI36 |
| NG_033141.1:g.8291dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.*103dup MANE Select | ENSP00000293549.3:n.*103dup | |
| NM_005430.3:c.*103dup | NP_005421.1:n.*103dup | |
| NM_005430.4:c.*103dup MANE Select | NP_005421.1:n.*103dup |