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