Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27804306C>T , CM000679.2:g.27804306C>T | GRCh38 |
| NC_000017.10:g.26131332C>T , CM000679.1:g.26131332C>T | GRCh37 |
| NC_000017.9:g.23155459C>T | NCBI36 |
| NG_011470.1:g.1224G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000582441.1:c.255G>A | ENSP00000462879.1:p.Gln85= | |
| XM_011524859.1:c.-257G>A | XP_011523161.1:n.-257G>A |