Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47881808A= , CM000681.2:g.47881808A= | GRCh38 |
| NC_000019.9:g.48385065A= , CM000681.1:g.48385065A= | GRCh37 |
| NC_000019.8:g.53076877A= | NCBI36 |
| NG_016745.1:g.9590T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222002.4:c.472+276T= MANE Select | ENSP00000222002.2:n.472+276T= | |
| ENST00000222002.3:c.472+276T= | ENSP00000222002.2:n.472+276T= | |
| NM_003167.3:c.472+276T= | NP_003158.2:n.472+276T= | |
| NM_003167.4:c.472+276T= MANE Select | NP_003158.2:n.472+276T= |