Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42132705C= , CM000684.2:g.42132705C= | GRCh38 |
| NC_000022.10:g.42528712C= , CM000684.1:g.42528712C= | GRCh37 |
| NC_000022.9:g.40858656C= | NCBI36 |
| NG_008376.3:g.2287G= | |
| NG_008376.4:g.3106G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417586.1:n.163C= | ||
| XM_011529967.1:c.-1045-869G= | XP_011528269.1:n.-1045-869G= |