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