Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038401T>C , CM000666.2:g.52038401T>C | GRCh38 |
| NC_000004.11:g.52904567T>C , CM000666.1:g.52904567T>C | GRCh37 |
| NC_000004.10:g.52599324T>C | NCBI36 |
| NG_008891.1:g.4919A>G , LRG_204:g.4919A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.9:c.-142A>G | ENSP00000370839.5:n.-142A>G |