Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52814204C>T , CM000674.2:g.52814204C>T | GRCh38 |
| NC_000012.11:g.53207988C>T , CM000674.1:g.53207988C>T | GRCh37 |
| NC_000012.10:g.51494255C>T | NCBI36 |
| NG_007380.1:g.5348G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.1:c.-146G>A | ENSP00000448220.1:n.-146G>A |