Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.54901547T>C , CM000672.2:g.54901547T>C | GRCh38 |
| NC_000010.10:g.56661307T>C , CM000672.1:g.56661307T>C | GRCh37 |
| NC_000010.9:g.56331313T>C | NCBI36 |
| NG_009191.3:g.732636A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000458638.1:c.-79-4047A>G | ENSP00000394465.1:n.-79-4047A>G | |
| ENST00000613346.4:c.-79-4047A>G | ENSP00000481211.1:n.-79-4047A>G | |
| NM_001354404.1:c.-79-4047A>G | NP_001341333.1:n.-79-4047A>G | |
| XM_017016573.2:c.-79-4047A>G | XP_016872062.1:n.-79-4047A>G | |
| NM_001354404.2:c.-79-4047A>G | NP_001341333.1:n.-79-4047A>G |