Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35797489G>T , CM000668.2:g.35797489G>T | GRCh38 |
| NC_000006.11:g.35765266G>T , CM000668.1:g.35765266G>T | GRCh37 |
| NC_000006.10:g.35873244G>T | NCBI36 |
| NG_012184.3:g.5284G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651132.1:c.-255+30G>T | ENSP00000498322.1:n.-255+30G>T | |
| XM_011514403.1:c.-135+30G>T | XP_011512705.1:n.-135+30G>T |