Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2161302G>C , CM000673.2:g.2161302G>C | GRCh38 |
| NC_000011.9:g.2182532G>C , CM000673.1:g.2182532G>C | GRCh37 |
| NC_000011.8:g.2139108G>C | NCBI36 |
| NG_007114.1:g.4893C>G | |
| NG_050578.1:g.4908C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000381330.4:c.-152C>G | ENSP00000370731.4:n.-152C>G |