Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038337T>G , CM000666.2:g.52038337T>G | GRCh38 |
| NC_000004.11:g.52904503T>G , CM000666.1:g.52904503T>G | GRCh37 |
| NC_000004.10:g.52599260T>G | NCBI36 |
| NG_008891.1:g.4983A>C , LRG_204:g.4983A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.9:c.-78A>C | ENSP00000370839.5:n.-78A>C |