Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.63153533A>G , CM000674.2:g.63153533A>G | GRCh38 |
| NC_000012.11:g.63547313A>G , CM000674.1:g.63547313A>G | GRCh37 |
| NC_000012.10:g.61833580A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_005269002.3:c.-2554-134T>C | XP_005269059.1:n.-2554-134T>C |