Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100045681G= , CM000672.2:g.100045681G= | GRCh38 |
| NC_000010.10:g.101805438G= , CM000672.1:g.101805438G= | GRCh37 |
| NC_000010.9:g.101795428G= | NCBI36 |
| NG_012060.1:g.41205C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370418.8:c.1230+3077C= MANE Select | ENSP00000359446.3:n.1230+3077C= | |
| ENST00000370418.7:c.1230+3077C= | ENSP00000359446.3:n.1230+3077C= | |
| NM_001308.2:c.1230+3077C= | NP_001299.1:n.1230+3077C= | |
| XM_011539299.1:c.1272+3077C= | XP_011537601.1:n.1272+3077C= | |
| NM_001308.3:c.1230+3077C= MANE Select | NP_001299.1:n.1230+3077C= |