Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75985694C>T , CM000676.2:g.75985694C>T | GRCh38 |
| NC_000014.8:g.76452037C>T , CM000676.1:g.76452037C>T | GRCh37 |
| NC_000014.7:g.75521790C>T | NCBI36 |
| NG_011715.1:g.1056G>A , LRG_399:g.1056G>A | |
| NG_031957.1:g.4942C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555677.5:n.90-3191C>T |