Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118304600T>A , CM000673.2:g.118304600T>A | GRCh38 |
| NC_000011.9:g.118175315T>A , CM000673.1:g.118175315T>A | GRCh37 |
| NC_000011.8:g.117680525T>A | NCBI36 |
| NG_007383.1:g.5021T>A , LRG_38:g.5021T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.8:c.-236T>A | ENSP00000354566.4:n.-236T>A | |
| NM_000733.3:c.-236T>A , LRG_38t1:c.-236T>A | NP_000724.1:n.-236T>A |