Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30768374C= , CM000668.2:g.30768374C= | GRCh38 |
| NC_000006.11:g.30736151C= , CM000668.1:g.30736151C= | GRCh37 |
| NC_000006.10:g.30844130C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_138037.1:n.127+1423C= | |
| XR_926688.1:n.79-20317C= |