Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63039169G>T , CM000670.2:g.63039169G>T | GRCh38 |
| NC_000008.10:g.63951728G>T , CM000670.1:g.63951728G>T | GRCh37 |
| NC_000008.9:g.64114282G>T | NCBI36 |
| NG_028126.1:g.4883C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000260118.6:c.-401C>A | ENSP00000260118.6:n.-401C>A |
| ENST00000677327.1:n.239C>A | |
| ENST00000679326.1:c.-401C>A | ENSP00000504262.1:n.-401C>A |
| XM_011517623.1:c.-401C>A | XP_011515925.1:n.-401C>A |