Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.6324122A>G , CM000667.2:g.6324122A>G | GRCh38 |
| NC_000005.9:g.6324235A>G , CM000667.1:g.6324235A>G | GRCh37 |
| NC_000005.8:g.6377235A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_028351.1:n.144-11406T>C |