Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762630A>T , CM000672.2:g.94762630A>T | GRCh38 |
| NC_000010.10:g.96522387A>T , CM000672.1:g.96522387A>T | GRCh37 |
| NC_000010.9:g.96512377A>T | NCBI36 |
| NG_008384.2:g.4925A>T | |
| NG_008384.3:g.4950A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.7:c.-76A>T | ENSP00000360372.3:n.-76A>T | |
| ENST00000464755.1:c.932-12428A>T | ENSP00000483243.1:n.932-12428A>T |