Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118304655G>A , CM000673.2:g.118304655G>A | GRCh38 |
| NC_000011.9:g.118175370G>A , CM000673.1:g.118175370G>A | GRCh37 |
| NC_000011.8:g.117680580G>A | NCBI36 |
| NG_007383.1:g.5076G>A , LRG_38:g.5076G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.8:c.-181G>A | ENSP00000354566.4:n.-181G>A | |
| NM_000733.3:c.-181G>A , LRG_38t1:c.-181G>A | NP_000724.1:n.-181G>A |