Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160486102C>G , CM000668.2:g.160486102C>G | GRCh38 |
| NC_000006.11:g.160907134C>G , CM000668.1:g.160907134C>G | GRCh37 |
| NC_000006.10:g.160827124C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_028092.1:n.691-128G>C | |
| NR_028093.1:n.691-128G>C | |
| ENST00000335388.5:n.691-128G>C | |
| ENST00000435757.6:n.691-128G>C | |
| ENST00000454031.5:n.654-160G>C | |
| ENST00000454031.6:n.732-128G>C | |
| XR_943186.1:n.91-3C>G |