Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520416C>G , CM000674.2:g.52520416C>G | GRCh38 |
| NC_000012.11:g.52914200C>G , CM000674.1:g.52914200C>G | GRCh37 |
| NC_000012.10:g.51200467C>G | NCBI36 |
| NG_008297.1:g.5044G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.8:c.-120G>C | ENSP00000252242.4:n.-120G>C | |
| ENST00000546577.1:c.-32G>C | ENSP00000449651.1:n.-32G>C | |
| NM_000424.3:c.-120G>C | NP_000415.2:n.-120G>C |