Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.155967289G>A , CM000667.2:g.155967289G>A | GRCh38 |
| NC_000005.9:g.155394299G>A , CM000667.1:g.155394299G>A | GRCh37 |
| NC_000005.8:g.155326877G>A | NCBI36 |
| NG_008693.2:g.101946G>A , LRG_205:g.101946G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517913.5:c.-282+96865G>A | ENSP00000429378.1:n.-282+96865G>A | |
| XM_017009723.2:c.-208+96865G>A | XP_016865212.1:n.-208+96865G>A | |
| XM_017009724.1:c.-207-156567G>A | XP_016865213.1:n.-207-156567G>A |