Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159302113G>T , CM000663.2:g.159302113G>T | GRCh38 |
| NC_000001.10:g.159271903G>T , CM000663.1:g.159271903G>T | GRCh37 |
| NC_000001.9:g.157538527G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368115.5:c.-59-193G>T | ENSP00000357097.1:n.-59-193G>T | |
| NM_002001.3:c.-59-193G>T | NP_001992.1:n.-59-193G>T | |
| NM_002001.4:c.-59-193G>T | NP_001992.1:n.-59-193G>T |