Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118304581A>G , CM000673.2:g.118304581A>G | GRCh38 |
| NC_000011.9:g.118175296A>G , CM000673.1:g.118175296A>G | GRCh37 |
| NC_000011.8:g.117680506A>G | NCBI36 |
| NG_007383.1:g.5002A>G , LRG_38:g.5002A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.8:c.-255A>G | ENSP00000354566.4:n.-255A>G | |
| NM_000733.3:c.-255A>G , LRG_38t1:c.-255A>G | NP_000724.1:n.-255A>G |