Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40472280T= , CM000677.2:g.40472280T= | GRCh38 |
| NC_000015.9:g.40764479T= , CM000677.1:g.40764479T= | GRCh37 |
| NC_000015.8:g.38551771T= | NCBI36 |
| NG_017074.1:g.6320T= , LRG_600:g.6320T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306243.7:c.1067T= MANE Select | ENSP00000307297.6:p.Ile356= | |
| ENST00000306243.6:c.1067T= | ENSP00000307297.5:p.Ile356= | |
| ENST00000559991.1:c.992T= | ENSP00000453882.1:p.Ile331= | |
| NM_130468.3:c.1067T= , LRG_600t1:c.1067T= | NP_569735.1:p.Ile356= | |
| NM_130468.4:c.1067T= MANE Select | NP_569735.1:p.Ile356= |