Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89285096C= , CM000673.2:g.89285096C= | GRCh38 |
| NC_000011.9:g.89018264C= , CM000673.1:g.89018264C= | GRCh37 |
| NC_000011.8:g.88657912C= | NCBI36 |
| NG_008748.1:g.112225C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.1366+142C= MANE Select | ENSP00000263321.4:n.1366+142C= | |
| ENST00000263321.5:c.1366+142C= | ENSP00000263321.4:n.1366+142C= | |
| ENST00000528243.1:n.364+142C= | ||
| NM_000372.4:c.1366+142C= | NP_000363.1:n.1366+142C= | |
| XM_011542970.1:c.1366+142C= | XP_011541272.1:n.1366+142C= | |
| XM_011542970.2:c.1366+142C= | XP_011541272.1:n.1366+142C= | |
| XR_001748321.1:n.2456+938G= | ||
| XR_001748322.1:n.2457+938G= | ||
| NM_000372.5:c.1366+142C= MANE Select | NP_000363.1:n.1366+142C= |