Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22030439A>C , CM000671.2:g.22030439A>C | GRCh38 |
| NC_000009.11:g.22030438A>C , CM000671.1:g.22030438A>C | GRCh37 |
| NC_000009.10:g.22020438A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_003529.3:n.533+845A>C | |
| NR_047532.1:n.533+845A>C | |
| NR_047533.1:n.372-16312A>C | |
| NR_047534.1:n.372-16312A>C | |
| NR_047535.1:n.372-16312A>C | |
| NR_047536.1:n.372-16312A>C | |
| NR_047537.1:n.372-16312A>C | |
| NR_047538.1:n.372-16312A>C | |
| NR_047539.1:n.533+845A>C | |
| NR_047540.1:n.372-16312A>C | |
| NR_047541.1:n.372-16312A>C | |
| NR_047542.1:n.372-16312A>C | |
| NR_047543.1:n.372-16312A>C | |
| NR_120536.1:n.372-16312A>C | |
| ENST00000404796.2:c.*77+845A>C | ENSP00000385916.2:n.*77+845A>C |