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