Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132369513T>C , CM000667.2:g.132369513T>C | GRCh38 |
| NC_000005.9:g.131705205T>C , CM000667.1:g.131705205T>C | GRCh37 |
| NC_000005.8:g.131733104T>C | NCBI36 |
| NG_008982.1:g.4805T>C | |
| NG_008982.2:g.4810T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110997.1:n.73+331A>G |