Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.31964652C>T , CM000676.2:g.31964652C>T | GRCh38 |
| NC_000014.8:g.32433858C>T , CM000676.1:g.32433858C>T | GRCh37 |
| NC_000014.7:g.31503609C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000611153.1:n.103C>T | |
| ENST00000613699.1:n.93C>T |