Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122454735G= , CM000672.2:g.122454735G= | GRCh38 |
| NC_000010.10:g.124214251G= , CM000672.1:g.124214251G= | GRCh37 |
| NC_000010.9:g.124204241G= | NCBI36 |
| NG_011725.1:g.5073G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001099667.3:c.8G= MANE Select | NP_001093137.1:p.Arg3= |
| ENST00000528446.1:c.8G= MANE Select | ENSP00000436682.1:p.Arg3= |
| NM_001099667.1:c.8G= | NP_001093137.1:p.Arg3= |
| NM_001099667.2:c.8G= | NP_001093137.1:p.Arg3= |
| XR_946382.1:n.1827+3760C= | |
| XR_946382.2:n.1855+3760C= | |
| XR_946383.1:n.1827+3760C= | |
| XR_946383.2:n.1855+3760C= | |
| XR_946384.1:n.1576+3760C= | |
| XR_946384.2:n.1580+3760C= |