Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92419271C>T , CM000672.2:g.92419271C>T | GRCh38 |
| NC_000010.10:g.94179028C>T , CM000672.1:g.94179028C>T | GRCh37 |
| NC_000010.9:g.94169008C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_038243.2:n.611C>T | |
| ENST00000430958.1:n.605C>T |