Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404221G>A , CM000666.2:g.73404221G>A | GRCh38 |
| NC_000004.11:g.74269938G>A , CM000666.1:g.74269938G>A | GRCh37 |
| NC_000004.10:g.74488802G>A | NCBI36 |
| NG_009291.1:g.4967G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441319.5:c.48-148G>A | ENSP00000392541.1:n.48-148G>A |