Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141553G>C , CM000665.2:g.10141553G>C | GRCh38 |
| NC_000003.11:g.10183237G>C , CM000665.1:g.10183237G>C | GRCh37 |
| NC_000003.10:g.10158237G>C | NCBI36 |
| NG_008212.3:g.4919G>C , LRG_322:g.4919G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256474.2:c.-295G>C | ENSP00000256474.2:n.-295G>C |