Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993305G>C , CM000665.2:g.36993305G>C | GRCh38 |
| NC_000003.11:g.37034796G>C , CM000665.1:g.37034796G>C | GRCh37 |
| NC_000003.10:g.37009800G>C | NCBI36 |
| NG_007109.2:g.4956G>C , LRG_216:g.4956G>C | |
| NG_008418.1:g.5000C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673673.2:c.-243G>C | ENSP00000500979.2:n.-243G>C |