Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132369668A>C , CM000667.2:g.132369668A>C | GRCh38 |
| NC_000005.9:g.131705360A>C , CM000667.1:g.131705360A>C | GRCh37 |
| NC_000005.8:g.131733259A>C | NCBI36 |
| NG_008982.1:g.4960A>C | |
| NG_008982.2:g.4965A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110997.1:n.73+176T>G |