Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.46046618A>C , CM000672.2:g.46046618A>C | GRCh38 |
| NC_000010.10:g.51549204T>G , CM000672.1:g.51549204T>G | GRCh37 |
| NC_000010.9:g.51219210T>G | NCBI36 |
| NG_011551.1:g.4652T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000663171.1:c.-142-239T>G | ENSP00000499419.1:n.-142-239T>G |