Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118304572C>T , CM000673.2:g.118304572C>T | GRCh38 |
| NC_000011.9:g.118175287C>T , CM000673.1:g.118175287C>T | GRCh37 |
| NC_000011.8:g.117680497C>T | NCBI36 |
| NG_007383.1:g.4993C>T , LRG_38:g.4993C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.8:c.-264C>T | ENSP00000354566.4:n.-264C>T |