Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80106619G>A , CM000668.2:g.80106619G>A | GRCh38 |
| NC_000006.11:g.80816336G>A , CM000668.1:g.80816336G>A | GRCh37 |
| NC_000006.10:g.80873055G>A | NCBI36 |
| NG_009775.1:g.4993G>A | |
| NG_009775.2:g.4993G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000056.4:c.-75G>A | NP_000047.1:n.-75G>A | |
| NM_001318975.1:c.-79G>A | NP_001305904.1:n.-79G>A | |
| NM_183050.3:c.-75G>A | NP_898871.1:n.-75G>A | |
| NR_134945.1:n.10G>A |