Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23403422A= , CM000676.2:g.23403422A= | GRCh38 |
| NC_000014.8:g.23872631A= , CM000676.1:g.23872631A= | GRCh37 |
| NC_000014.7:g.22942471A= | NCBI36 |
| NG_023444.1:g.9856T= , LRG_389:g.9856T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002471.4:c.824T= MANE Select | NP_002462.2:p.Ile275= |
| ENST00000405093.9:c.824T= MANE Select | ENSP00000386041.3:p.Ile275= |
| NM_002471.3:c.824T= , LRG_389t1:c.824T= | NP_002462.2:p.Ile275= |
| ENST00000356287.3:c.824T= | ENSP00000348634.3:p.Ile275= |
| ENST00000405093.7:c.824T= | ENSP00000386041.3:p.Ile275= |
| ENST00000557461.1:n.878T= | |
| ENST00000557461.2:n.891T= |