Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63039052G>C , CM000670.2:g.63039052G>C | GRCh38 |
| NC_000008.10:g.63951611G>C , CM000670.1:g.63951611G>C | GRCh37 |
| NC_000008.9:g.64114165G>C | NCBI36 |
| NG_028126.1:g.5000C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000677327.1:n.356C>G | ||
| ENST00000679326.1:c.-284C>G | ENSP00000504262.1:n.-284C>G | |
| ENST00000260118.6:c.-284C>G | ENSP00000260118.6:n.-284C>G | |
| XM_011517623.1:c.-284C>G | XP_011515925.1:n.-284C>G |