Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.46046573T>G , CM000672.2:g.46046573T>G | GRCh38 |
| NC_000010.10:g.51549249A>C , CM000672.1:g.51549249A>C | GRCh37 |
| NC_000010.9:g.51219255A>C | NCBI36 |
| NG_011551.1:g.4697A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000663171.1:c.-142-194A>C | ENSP00000499419.1:n.-142-194A>C |