Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71376162G>C , CM000672.2:g.71376162G>C | GRCh38 |
| NC_000010.10:g.73135919G>C , CM000672.1:g.73135919G>C | GRCh37 |
| NC_000010.9:g.72805925G>C | NCBI36 |
| NG_017066.2:g.61904G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000642772.1:c.*211+351G>C | ENSP00000495041.1:n.*211+351G>C |
| ENST00000644895.1:c.*216+351G>C | ENSP00000493872.1:n.*216+351G>C |