Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27543283T= , CM000671.2:g.27543283T= | GRCh38 |
| NC_000009.11:g.27543281T= , CM000671.1:g.27543281T= | GRCh37 |
| NC_000009.10:g.27533281T= | NCBI36 |
| NG_031977.2:g.35584A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000673600.1:c.*267+4832A= | ENSP00000500650.1:n.*267+4832A= |
| XR_001746639.2:n.862A= |