Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29212944G>T , CM000668.2:g.29212944G>T | GRCh38 |
| NC_000006.11:g.29180721G>T , CM000668.1:g.29180721G>T | GRCh37 |
| NC_000006.10:g.29288700G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000642091.1:n.44+15G>T | |
| XR_926672.1:n.201-7843C>A |