Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.30731006A= , CM000675.2:g.30731006A= | GRCh38 |
| NC_000013.10:g.31305143A= , CM000675.1:g.31305143A= | GRCh37 |
| NC_000013.9:g.30203143A= | NCBI36 |
| NG_011963.2:g.22529A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001204406.1:c.117-4545A= | NP_001191335.1:n.117-4545A= |
| NM_001204406.2:c.117-4545A= | NP_001191335.1:n.117-4545A= |
| ENST00000617770.4:c.117-4545A= | ENSP00000479870.1:n.117-4545A= |