Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40285532A>G , CM000681.2:g.40285532A>G | GRCh38 |
| NC_000019.9:g.40791439A>G , CM000681.1:g.40791439A>G | GRCh37 |
| NC_000019.8:g.45483279A>G | NCBI36 |
| NG_012038.2:g.4827T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000578123.5:c.-169T>C | ENSP00000462022.1:n.-169T>C |