Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.55031209T>G , CM000672.2:g.55031209T>G | GRCh38 |
| NC_000010.10:g.56790969T>G , CM000672.1:g.56790969T>G | GRCh37 |
| NC_000010.9:g.56460975T>G | NCBI36 |
| NG_009191.3:g.602974A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001354404.1:c.-79-133709A>C | NP_001341333.1:n.-79-133709A>C |
| NM_001354404.2:c.-79-133709A>C | NP_001341333.1:n.-79-133709A>C |
| ENST00000458638.1:c.-79-133709A>C | ENSP00000394465.1:n.-79-133709A>C |
| ENST00000613346.4:c.-79-133709A>C | ENSP00000481211.1:n.-79-133709A>C |
| XM_017016573.2:c.-156-82608A>C | XP_016872062.1:n.-156-82608A>C |