Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118304598G>T , CM000673.2:g.118304598G>T | GRCh38 |
| NC_000011.9:g.118175313G>T , CM000673.1:g.118175313G>T | GRCh37 |
| NC_000011.8:g.117680523G>T | NCBI36 |
| NG_007383.1:g.5019G>T , LRG_38:g.5019G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.8:c.-238G>T | ENSP00000354566.4:n.-238G>T | |
| NM_000733.3:c.-238G>T , LRG_38t1:c.-238G>T | NP_000724.1:n.-238G>T |