Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17129852C>A , CM000672.2:g.17129852C>A | GRCh38 |
| NC_000010.10:g.17171851C>A , CM000672.1:g.17171851C>A | GRCh37 |
| NC_000010.9:g.17211857C>A | NCBI36 |
| NG_008967.1:g.4966G>T , LRG_540:g.4966G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011519708.1:c.-87G>T | XP_011518010.1:n.-87G>T | |
| XM_011519708.2:c.-87G>T | XP_011518010.1:n.-87G>T |