Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75724261G>T , CM000663.2:g.75724261G>T | GRCh38 |
| NC_000001.10:g.76189946G>T , CM000663.1:g.76189946G>T | GRCh37 |
| NC_000001.9:g.75962534G>T | NCBI36 |
| NG_007045.2:g.4904G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011540981.1:c.-1518C>A | XP_011539283.1:n.-1518C>A | |
| XM_011540982.1:c.-1548C>A | XP_011539284.1:n.-1548C>A | |
| XM_011540984.1:c.-1634C>A | XP_011539286.1:n.-1634C>A | |
| XM_017000609.1:c.-1488C>A | XP_016856098.1:n.-1488C>A | |
| XM_017000610.1:c.-566C>A | XP_016856099.1:n.-566C>A |