Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75723803C= , CM000663.2:g.75723803C= | GRCh38 |
| NC_000001.10:g.76189488C= , CM000663.1:g.76189488C= | GRCh37 |
| NC_000001.9:g.75962076C= | NCBI36 |
| NG_007045.2:g.4446C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000433521.2:n.71-15G= | |
| ENST00000648424.1:n.108+139G= | |
| XM_011540981.1:c.-1060G= | XP_011539283.1:n.-1060G= |
| XM_011540982.1:c.-1180G= | XP_011539284.1:n.-1180G= |
| XM_011540984.1:c.-1176G= | XP_011539286.1:n.-1176G= |
| XM_017000609.1:c.-1030G= | XP_016856098.1:n.-1030G= |
| XM_017000610.1:c.-247+139G= | XP_016856099.1:n.-247+139G= |