Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42132275C>G , CM000684.2:g.42132275C>G | GRCh38 |
| NC_000022.10:g.42528282C>G , CM000684.1:g.42528282C>G | GRCh37 |
| NC_000022.9:g.40858226C>G | NCBI36 |
| NG_008376.3:g.2717G>C | |
| NG_008376.4:g.3536G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_011529967.1:c.-1045-439G>C | XP_011528269.1:n.-1045-439G>C |