Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63039068G>T , CM000670.2:g.63039068G>T | GRCh38 |
| NC_000008.10:g.63951627G>T , CM000670.1:g.63951627G>T | GRCh37 |
| NC_000008.9:g.64114181G>T | NCBI36 |
| NG_028126.1:g.4984C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000677327.1:n.340C>A | ||
| ENST00000679326.1:c.-300C>A | ENSP00000504262.1:n.-300C>A | |
| ENST00000260118.6:c.-300C>A | ENSP00000260118.6:n.-300C>A | |
| XM_011517623.1:c.-300C>A | XP_011515925.1:n.-300C>A |