Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23633113G>A , CM000682.2:g.23633113G>A | GRCh38 |
| NC_000020.10:g.23613750G>A , CM000682.1:g.23613750G>A | GRCh37 |
| NC_000020.9:g.23561750G>A | NCBI36 |
| NG_012887.2:g.9825C>T | |
| NG_012887.3:g.9825C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001288614.1:c.*2+801C>T | NP_001275543.1:n.*2+801C>T |
| NM_001288614.2:c.*2+801C>T | NP_001275543.1:n.*2+801C>T |
| ENST00000398411.5:c.*2+801C>T | ENSP00000381448.1:n.*2+801C>T |