Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102503743T>C , CM000672.2:g.102503743T>C | GRCh38 |
| NC_000010.10:g.104263500T>C , CM000672.1:g.104263500T>C | GRCh37 |
| NC_000010.9:g.104253490T>C | NCBI36 |
| NG_011901.1:g.4013A>G | |
| NG_021338.1:g.4782T>C , LRG_521:g.4782T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011539859.1:c.-29-381T>C | XP_011538161.1:n.-29-381T>C | |
| XM_011539863.1:c.8+757T>C | XP_011538165.1:n.8+757T>C | |
| XM_011539863.3:c.8+757T>C | XP_011538165.1:n.8+757T>C |