Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404230A>G , CM000666.2:g.73404230A>G | GRCh38 |
| NC_000004.11:g.74269947A>G , CM000666.1:g.74269947A>G | GRCh37 |
| NC_000004.10:g.74488811A>G | NCBI36 |
| NG_009291.1:g.4976A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000441319.5:c.48-139A>G | ENSP00000392541.1:n.48-139A>G |