Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12089265G>C , CM000672.2:g.12089265G>C | GRCh38 |
| NC_000010.10:g.12131264G>C , CM000672.1:g.12131264G>C | GRCh37 |
| NC_000010.9:g.12171270G>C | NCBI36 |
| NG_033248.1:g.25349G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018706.7:c.987+10G>C MANE Select | NP_061176.4:n.987+10G>C |
| ENST00000263035.9:c.987+10G>C MANE Select | ENSP00000263035.4:n.987+10G>C |
| NM_018706.6:c.987+10G>C | NP_061176.3:n.987+10G>C |
| ENST00000263035.8:c.987+10G>C | ENSP00000263035.4:n.987+10G>C |
| ENST00000415935.1:c.81+10G>C | ENSP00000400625.1:n.81+10G>C |
| ENST00000437298.1:c.792+10G>C | ENSP00000388163.1:n.792+10G>C |
| ENST00000465617.1:n.299+1536G>C |