Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113105787C>T , CM000675.2:g.113105787C>T | GRCh38 |
| NC_000013.10:g.113760101C>T , CM000675.1:g.113760101C>T | GRCh37 |
| NC_000013.9:g.112808102C>T | NCBI36 |
| NG_009262.1:g.4997C>T , LRG_554:g.4997C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_006719963.3:c.-10C>T | XP_006720026.2:n.-10C>T |
| XM_011537474.2:c.-10C>T | XP_011535776.2:n.-10C>T |
| XM_011537475.2:c.-10C>T | XP_011535777.2:n.-10C>T |