Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32010012A= , CM000668.2:g.32010012A= | GRCh38 |
| NC_000006.11:g.31977789A= , CM000668.1:g.31977789A= | GRCh37 |
| NC_000006.10:g.32085767A= | NCBI36 |
| NG_011639.1:g.219A= , LRG_138:g.219A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507684.1:n.1314T= | ||
| NR_001284.2:n.1865T= |