Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40285487G>A , CM000681.2:g.40285487G>A | GRCh38 |
| NC_000019.9:g.40791394G>A , CM000681.1:g.40791394G>A | GRCh37 |
| NC_000019.8:g.45483234G>A | NCBI36 |
| NG_012038.2:g.4872C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578123.5:c.-124C>T | ENSP00000462022.1:n.-124C>T | |
| XM_011526620.1:c.-124C>T | XP_011524922.1:n.-124C>T |