Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12107897G>C , CM000672.2:g.12107897G>C | GRCh38 |
| NC_000010.10:g.12149896G>C , CM000672.1:g.12149896G>C | GRCh37 |
| NC_000010.9:g.12189902G>C | NCBI36 |
| NG_033248.1:g.43981G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263035.9:c.2048-12G>C MANE Select | ENSP00000263035.4:n.2048-12G>C | |
| ENST00000263035.8:c.2048-12G>C | ENSP00000263035.4:n.2048-12G>C | |
| ENST00000448829.1:c.551-12G>C | ||
| NM_018706.6:c.2048-12G>C | NP_061176.3:n.2048-12G>C | |
| NM_018706.7:c.2048-12G>C MANE Select | NP_061176.4:n.2048-12G>C |