Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116840309T>C , CM000673.2:g.116840309T>C | GRCh38 |
| NC_000011.9:g.116711025T>C , CM000673.1:g.116711025T>C | GRCh37 |
| NC_000011.8:g.116216235T>C | NCBI36 |
| NG_012021.1:g.2314A>G , LRG_767:g.2314A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_126362.1:n.123+4070T>C |