Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.90000528A>C , CM000678.2:g.90000528A>C | GRCh38 |
| NC_000016.9:g.90066936A>C , CM000678.1:g.90066936A>C | GRCh37 |
| NC_000016.8:g.88594437A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_003228.1:n.1682A>C | |
| ENST00000355531.7:n.1304A>C | |
| ENST00000388970.7:n.1441A>C | |
| ENST00000454997.1:n.1694A>C | |
| ENST00000557444.5:n.2307A>C |