Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31200074C>T , CM000668.2:g.31200074C>T | GRCh38 |
| NC_000006.11:g.31167851C>T , CM000668.1:g.31167851C>T | GRCh37 |
| NC_000006.10:g.31275830C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383331.4:c.123+2192C>T | ||
| ENST00000414008.2:n.181C>T | ||
| ENST00000424675.1:c.44+1893C>T | ||
| NR_026791.1:n.123+2192C>T |