Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17129839C>T , CM000672.2:g.17129839C>T | GRCh38 |
| NC_000010.10:g.17171838C>T , CM000672.1:g.17171838C>T | GRCh37 |
| NC_000010.9:g.17211844C>T | NCBI36 |
| NG_008967.1:g.4979G>A , LRG_540:g.4979G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_011519708.1:c.-74G>A | XP_011518010.1:n.-74G>A | |
| XM_011519708.2:c.-74G>A | XP_011518010.1:n.-74G>A |