Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.155967226T>A , CM000667.2:g.155967226T>A | GRCh38 |
| NC_000005.9:g.155394236T>A , CM000667.1:g.155394236T>A | GRCh37 |
| NC_000005.8:g.155326814T>A | NCBI36 |
| NG_008693.2:g.101883T>A , LRG_205:g.101883T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517913.5:c.-282+96802T>A | ENSP00000429378.1:n.-282+96802T>A | |
| XM_017009723.2:c.-208+96802T>A | XP_016865212.1:n.-208+96802T>A | |
| XM_017009724.1:c.-207-156630T>A | XP_016865213.1:n.-207-156630T>A |