Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.55031225C>T , CM000672.2:g.55031225C>T | GRCh38 |
| NC_000010.10:g.56790985C>T , CM000672.1:g.56790985C>T | GRCh37 |
| NC_000010.9:g.56460991C>T | NCBI36 |
| NG_009191.3:g.602958G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458638.1:c.-79-133725G>A | ENSP00000394465.1:n.-79-133725G>A | |
| ENST00000613346.4:c.-79-133725G>A | ENSP00000481211.1:n.-79-133725G>A | |
| NM_001354404.1:c.-79-133725G>A | NP_001341333.1:n.-79-133725G>A | |
| XM_017016573.2:c.-156-82624G>A | XP_016872062.1:n.-156-82624G>A | |
| NM_001354404.2:c.-79-133725G>A | NP_001341333.1:n.-79-133725G>A |