Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22056500G>C , CM000671.2:g.22056500G>C | GRCh38 |
| NC_000009.11:g.22056499G>C , CM000671.1:g.22056499G>C | GRCh37 |
| NC_000009.10:g.22046499G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_003529.3:n.1388+113G>C | ||
| NR_047532.1:n.1075+113G>C | ||
| NR_047533.1:n.644+7272G>C | ||
| NR_047534.1:n.644+7272G>C | ||
| NR_047535.1:n.780+113G>C | ||
| NR_047536.1:n.644+7272G>C | ||
| NR_047537.1:n.780+113G>C | ||
| NR_047538.1:n.644+7272G>C | ||
| NR_047539.1:n.1388+113G>C | ||
| NR_047540.1:n.780+113G>C | ||
| NR_047541.1:n.780+113G>C | ||
| NR_047542.1:n.780+113G>C | ||
| NR_047543.1:n.780+113G>C | ||
| NR_120536.1:n.644+7272G>C |