Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68737227C>T , CM000678.2:g.68737227C>T | GRCh38 |
| NC_000016.9:g.68771130C>T , CM000678.1:g.68771130C>T | GRCh37 |
| NC_000016.8:g.67328631C>T | NCBI36 |
| NG_008021.1:g.4936C>T , LRG_301:g.4936C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.9:c.-189C>T | ENSP00000261769.4:n.-189C>T |