Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.63151910G>A , CM000674.2:g.63151910G>A | GRCh38 |
| NC_000012.11:g.63545690G>A , CM000674.1:g.63545690G>A | GRCh37 |
| NC_000012.10:g.61831957G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000706.4:c.-1074C>T | NP_000697.1:n.-1074C>T | |
| XM_005269002.3:c.-1065C>T | XP_005269059.1:n.-1065C>T |