Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42132757C>T , CM000684.2:g.42132757C>T | GRCh38 |
| NC_000022.10:g.42528764C>T , CM000684.1:g.42528764C>T | GRCh37 |
| NC_000022.9:g.40858708C>T | NCBI36 |
| NG_008376.3:g.2235G>A | |
| NG_008376.4:g.3054G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417586.1:n.215C>T | ||
| XM_011529967.1:c.-1045-921G>A | XP_011528269.1:n.-1045-921G>A |