Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12904465C>T , CM000686.2:g.12904465C>T | GRCh38 |
| NC_000024.9:g.15016376C>T , CM000686.1:g.15016376C>T | GRCh37 |
| NC_000024.8:g.13525770C>T | NCBI36 |
| NG_012831.1:g.5358C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360160.8:c.-3+51C>T | ENSP00000353284.4:n.-3+51C>T | |
| ENST00000454054.5:c.-80+51C>T | ENSP00000398953.1:n.-80+51C>T | |
| NM_001122665.2:c.-3+51C>T | NP_001116137.1:n.-3+51C>T | |
| NM_001122665.3:c.-3+51C>T | NP_001116137.1:n.-3+51C>T |