Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102503830C>T , CM000672.2:g.102503830C>T | GRCh38 |
| NC_000010.10:g.104263587C>T , CM000672.1:g.104263587C>T | GRCh37 |
| NC_000010.9:g.104253577C>T | NCBI36 |
| NG_011901.1:g.3926G>A | |
| NG_021338.1:g.4869C>T , LRG_521:g.4869C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011539859.1:c.-29-294C>T | XP_011538161.1:n.-29-294C>T | |
| XM_011539863.1:c.8+844C>T | XP_011538165.1:n.8+844C>T | |
| XM_011539863.3:c.8+844C>T | XP_011538165.1:n.8+844C>T |