Linked Data
gnomAD v4:
20-46010989-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46010991dup , CM000682.2:g.46010991dup | GRCh38 |
| NC_000020.10:g.44639630dup , CM000682.1:g.44639630dup | GRCh37 |
| NC_000020.9:g.44073037dup | NCBI36 |
| NG_011468.1:g.7084dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.590dup MANE Select | ENSP00000361405.3:p.Ile198HisfsTer10 | |
| NM_004994.2:c.590dup | NP_004985.2:p.Ile198HisfsTer10 | |
| NM_004994.3:c.590dup MANE Select | NP_004985.2:p.Ile198HisfsTer10 |