Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71790705C= , CM000666.2:g.71790705C= | GRCh38 |
| NC_000004.11:g.72656422C= , CM000666.1:g.72656422C= | GRCh37 |
| NC_000004.10:g.72875286C= | NCBI36 |
| NG_012837.2:g.19816G= | |
| NG_012837.3:g.19816G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001204306.1:c.-36-6651G= | NP_001191235.1:n.-36-6651G= |
| NM_001204307.1:c.22-6651G= | NP_001191236.1:n.22-6651G= |
| ENST00000504199.5:c.22-6651G= | ENSP00000421725.1:n.22-6651G= |