Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156963286T>C , CM000667.2:g.156963286T>C | GRCh38 |
| NC_000005.9:g.156390297T>C , CM000667.1:g.156390297T>C | GRCh37 |
| NC_000005.8:g.156322875T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011534693.1:c.-95-8530A>G | XP_011532995.1:n.-95-8530A>G |