Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520417T>A , CM000674.2:g.52520417T>A | GRCh38 |
| NC_000012.11:g.52914201T>A , CM000674.1:g.52914201T>A | GRCh37 |
| NC_000012.10:g.51200468T>A | NCBI36 |
| NG_008297.1:g.5043A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.8:c.-121A>T | ENSP00000252242.4:n.-121A>T | |
| ENST00000546577.1:c.-33A>T | ENSP00000449651.1:n.-33A>T | |
| NM_000424.3:c.-121A>T | NP_000415.2:n.-121A>T |