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