Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40285476C>A , CM000681.2:g.40285476C>A | GRCh38 |
| NC_000019.9:g.40791383C>A , CM000681.1:g.40791383C>A | GRCh37 |
| NC_000019.8:g.45483223C>A | NCBI36 |
| NG_012038.2:g.4883G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578123.5:c.-113G>T | ENSP00000462022.1:n.-113G>T | |
| XM_011526620.1:c.-113G>T | XP_011524922.1:n.-113G>T |