Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044094A>T , CM000674.2:g.5044094A>T | GRCh38 |
| NC_000012.11:g.5153260A>T , CM000674.1:g.5153260A>T | GRCh37 |
| NC_000012.10:g.5023521A>T | NCBI36 |
| NG_012198.1:g.5176A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.-54A>T MANE Select | ENSP00000252321.3:n.-54A>T | |
| ENST00000252321.4:c.-54A>T | ENSP00000252321.3:n.-54A>T | |
| NM_002234.3:c.-54A>T | NP_002225.2:n.-54A>T | |
| NM_002234.4:c.-54A>T MANE Select | NP_002225.2:n.-54A>T |