Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75985700A>G , CM000676.2:g.75985700A>G | GRCh38 |
| NC_000014.8:g.76452043A>G , CM000676.1:g.76452043A>G | GRCh37 |
| NC_000014.7:g.75521796A>G | NCBI36 |
| NG_011715.1:g.1050T>C , LRG_399:g.1050T>C | |
| NG_031957.1:g.4948A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555677.5:n.90-3185A>G |