Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132369625C>T , CM000667.2:g.132369625C>T | GRCh38 |
| NC_000005.9:g.131705317C>T , CM000667.1:g.131705317C>T | GRCh37 |
| NC_000005.8:g.131733216C>T | NCBI36 |
| NG_008982.1:g.4917C>T | |
| NG_008982.2:g.4922C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110997.1:n.73+219G>A |