Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132369653C= , CM000667.2:g.132369653C= | GRCh38 |
| NC_000005.9:g.131705345C= , CM000667.1:g.131705345C= | GRCh37 |
| NC_000005.8:g.131733244C= | NCBI36 |
| NG_008982.1:g.4945C= | |
| NG_008982.2:g.4950C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110997.1:n.73+191G= |