Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13915543G= , CM000680.2:g.13915543G= | GRCh38 |
| NC_000018.9:g.13915542G= , CM000680.1:g.13915542G= | GRCh37 |
| NC_000018.8:g.13905542G= | NCBI36 |
| NG_011819.1:g.4994C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001291911.1:c.-129+87C= | NP_001278840.1:n.-129+87C= |
| ENST00000399821.2:c.-129+87C= | ENSP00000382718.2:n.-129+87C= |
| XM_017025781.1:c.-716C= | XP_016881270.1:n.-716C= |