Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31200098C>A , CM000668.2:g.31200098C>A | GRCh38 |
| NC_000006.11:g.31167875C>A , CM000668.1:g.31167875C>A | GRCh37 |
| NC_000006.10:g.31275854C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383331.4:c.123+2216C>A | ||
| ENST00000414008.2:n.205C>A | ||
| ENST00000424675.1:c.44+1917C>A | ||
| NR_026791.1:n.123+2216C>A |