Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.63151900G>T , CM000674.2:g.63151900G>T | GRCh38 |
| NC_000012.11:g.63545680G>T , CM000674.1:g.63545680G>T | GRCh37 |
| NC_000012.10:g.61831947G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000706.4:c.-1064C>A | NP_000697.1:n.-1064C>A | |
| XM_005269002.3:c.-1055C>A | XP_005269059.1:n.-1055C>A |