Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488334dup , CM000674.2:g.52488334dup | GRCh38 |
| NC_000012.11:g.52882118dup , CM000674.1:g.52882118dup | GRCh37 |
| NC_000012.10:g.51168385dup | NCBI36 |
| NG_008298.1:g.10064dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1418dup MANE Select | ENSP00000369317.3:p.Cys474ValfsTer? | |
| ENST00000330722.6:c.1418dup | ENSP00000369317.3:p.Cys474ValfsTer? | |
| NM_005554.3:c.1418dup | NP_005545.1:p.Cys474ValfsTer? | |
| NM_005554.4:c.1418dup MANE Select | NP_005545.1:p.Cys474ValfsTer? |