Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23392967C= , CM000676.2:g.23392967C= | GRCh38 |
| NC_000014.8:g.23862176C= , CM000676.1:g.23862176C= | GRCh37 |
| NC_000014.7:g.22932016C= | NCBI36 |
| NG_023444.1:g.20311G= , LRG_389:g.20311G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405093.9:c.3196G= MANE Select | ENSP00000386041.3:p.Glu1066= | |
| ENST00000356287.3:c.3196G= | ENSP00000348634.3:p.Glu1066= | |
| ENST00000405093.7:c.3196G= | ENSP00000386041.3:p.Glu1066= | |
| NM_002471.3:c.3196G= , LRG_389t1:c.3196G= | NP_002462.2:p.Glu1066= | |
| NM_002471.4:c.3196G= MANE Select | NP_002462.2:p.Glu1066= |