Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99321816G= , CM000666.2:g.99321816G= | GRCh38 |
| NC_000004.11:g.100242973G= , CM000666.1:g.100242973G= | GRCh37 |
| NC_000004.10:g.100461996G= | NCBI36 |
| NG_011435.1:g.4600C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639454.1:c.19-2930C= | ENSP00000491622.1:n.19-2930C= |