Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40285478A>G , CM000681.2:g.40285478A>G | GRCh38 |
| NC_000019.9:g.40791385A>G , CM000681.1:g.40791385A>G | GRCh37 |
| NC_000019.8:g.45483225A>G | NCBI36 |
| NG_012038.2:g.4881T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578123.5:c.-115T>C | ENSP00000462022.1:n.-115T>C | |
| XM_011526620.1:c.-115T>C | XP_011524922.1:n.-115T>C |