Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231450C= , CM000672.2:g.68231450C= | GRCh38 |
| NC_000010.10:g.69991207C= , CM000672.1:g.69991207C= | GRCh37 |
| NC_000010.9:g.69661213C= | NCBI36 |
| NG_031934.1:g.5664G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.228G= MANE Select | ENSP00000362777.3:p.Leu76= | |
| ENST00000373673.4:c.228G= | ENSP00000362777.3:p.Leu76= | |
| NM_145178.3:c.228G= | NP_660161.1:p.Leu76= | |
| NM_145178.4:c.228G= MANE Select | NP_660161.1:p.Leu76= |