Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17105456C= , CM000672.2:g.17105456C= | GRCh38 |
| NC_000010.10:g.17147455C= , CM000672.1:g.17147455C= | GRCh37 |
| NC_000010.9:g.17187461C= | NCBI36 |
| NG_008967.1:g.29362G= , LRG_540:g.29362G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001081.4:c.1230+1G= MANE Select | NP_001072.2:n.1230+1G= |
| ENST00000377833.10:c.1230+1G= MANE Select | ENSP00000367064.4:n.1230+1G= |
| NM_001081.3:c.1230+1G= , LRG_540t1:c.1230+1G= | NP_001072.2:n.1230+1G= |
| ENST00000377833.8:c.1230+1G= | ENSP00000367064.4:n.1230+1G= |
| XM_011519708.1:c.1230+1G= | XP_011518010.1:n.1230+1G= |
| XM_011519708.2:c.1230+1G= | XP_011518010.1:n.1230+1G= |