Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45869316A= , CM000669.2:g.45869316A= | GRCh38 |
| NC_000007.13:g.45908915A= , CM000669.1:g.45908915A= | GRCh37 |
| NC_000007.12:g.45875440A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001395235.1:c.19-2822T= MANE Select | NP_001382164.1:n.19-2822T= |
| ENST00000636578.2:c.19-2822T= MANE Select | ENSP00000489712.1:n.19-2822T= |