Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42132702G= , CM000684.2:g.42132702G= | GRCh38 |
| NC_000022.10:g.42528709G= , CM000684.1:g.42528709G= | GRCh37 |
| NC_000022.9:g.40858653G= | NCBI36 |
| NG_008376.3:g.2290C= | |
| NG_008376.4:g.3109C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417586.1:n.160G= | ||
| XM_011529967.1:c.-1045-866C= | XP_011528269.1:n.-1045-866C= |