Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116840425C= , CM000673.2:g.116840425C= | GRCh38 |
| NC_000011.9:g.116711141C= , CM000673.1:g.116711141C= | GRCh37 |
| NC_000011.8:g.116216351C= | NCBI36 |
| NG_012021.1:g.2198G= , LRG_767:g.2198G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_126362.1:n.123+4186C= |