Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152578800A>C , CM000663.2:g.152578800A>C | GRCh38 |
| NC_000001.10:g.152551276A>C , CM000663.1:g.152551276A>C | GRCh37 |
| NC_000001.9:g.150817900A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000617545.1:c.45-21991A>C | ENSP00000482477.1:n.45-21991A>C |