Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23392968C= , CM000676.2:g.23392968C= | GRCh38 |
| NC_000014.8:g.23862177C= , CM000676.1:g.23862177C= | GRCh37 |
| NC_000014.7:g.22932017C= | NCBI36 |
| NG_023444.1:g.20310G= , LRG_389:g.20310G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002471.4:c.3195G= MANE Select | NP_002462.2:p.Gln1065= |
| ENST00000405093.9:c.3195G= MANE Select | ENSP00000386041.3:p.Gln1065= |
| NM_002471.3:c.3195G= , LRG_389t1:c.3195G= | NP_002462.2:p.Gln1065= |
| ENST00000356287.3:c.3195G= | ENSP00000348634.3:p.Gln1065= |
| ENST00000405093.7:c.3195G= | ENSP00000386041.3:p.Gln1065= |