Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35797577A>T , CM000668.2:g.35797577A>T | GRCh38 |
| NC_000006.11:g.35765354A>T , CM000668.1:g.35765354A>T | GRCh37 |
| NC_000006.10:g.35873332A>T | NCBI36 |
| NG_012184.3:g.5372A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651132.1:c.-255+118A>T | ENSP00000498322.1:n.-255+118A>T | |
| XM_011514403.1:c.-135+118A>T | XP_011512705.1:n.-135+118A>T |