Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99321908A= , CM000666.2:g.99321908A= | GRCh38 |
| NC_000004.11:g.100243065A= , CM000666.1:g.100243065A= | GRCh37 |
| NC_000004.10:g.100462088A= | NCBI36 |
| NG_011435.1:g.4508T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000639454.1:c.19-3022T= | ENSP00000491622.1:n.19-3022T= |