Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42132334C>G , CM000684.2:g.42132334C>G | GRCh38 |
| NC_000022.10:g.42528341C>G , CM000684.1:g.42528341C>G | GRCh37 |
| NC_000022.9:g.40858285C>G | NCBI36 |
| NG_008376.3:g.2658G>C | |
| NG_008376.4:g.3477G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011529967.1:c.-1045-498G>C | XP_011528269.1:n.-1045-498G>C |