Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40285480A>C , CM000681.2:g.40285480A>C | GRCh38 |
| NC_000019.9:g.40791387A>C , CM000681.1:g.40791387A>C | GRCh37 |
| NC_000019.8:g.45483227A>C | NCBI36 |
| NG_012038.2:g.4879T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000578123.5:c.-117T>G | ENSP00000462022.1:n.-117T>G | |
| XM_011526620.1:c.-117T>G | XP_011524922.1:n.-117T>G |