Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.8000884A= , CM000668.2:g.8000884A= | GRCh38 |
| NC_000006.11:g.8001117A= , CM000668.1:g.8001117A= | GRCh37 |
| NC_000006.10:g.7946116A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439343.2:c.372+25483T= | ENSP00000454697.1:n.372+25483T= | |
| NR_037616.1:n.422+25483T= |