Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55346207G>A , CM000666.2:g.55346207G>A | GRCh38 |
| NC_000004.11:g.56212374G>A , CM000666.1:g.56212374G>A | GRCh37 |
| NC_000004.10:g.55907131G>A | NCBI36 |
| NG_028230.1:g.4987G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264228.8:c.-130G>A | ENSP00000264228.4:n.-130G>A |