Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132369652C>G , CM000667.2:g.132369652C>G | GRCh38 |
| NC_000005.9:g.131705344C>G , CM000667.1:g.131705344C>G | GRCh37 |
| NC_000005.8:g.131733243C>G | NCBI36 |
| NG_008982.1:g.4944C>G | |
| NG_008982.2:g.4949C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110997.1:n.73+192G>C |