Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23629625C= , CM000682.2:g.23629625C= | GRCh38 |
| NC_000020.10:g.23610262C= , CM000682.1:g.23610262C= | GRCh37 |
| NC_000020.9:g.23558262C= | NCBI36 |
| NG_012887.2:g.13313G= | |
| NG_012887.3:g.13313G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001288614.1:c.*3-160G= | NP_001275543.1:n.*3-160G= |
| NM_001288614.2:c.*3-160G= | NP_001275543.1:n.*3-160G= |
| ENST00000398411.5:c.*3-160G= | ENSP00000381448.1:n.*3-160G= |