Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436738T= , CM000678.2:g.67436738T= | GRCh38 |
| NC_000016.9:g.67470641T= , CM000678.1:g.67470641T= | GRCh37 |
| NC_000016.8:g.66028142T= | NCBI36 |
| NG_011482.1:g.49449A= | |
| NG_016549.1:g.10606T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.953T= MANE Select | ENSP00000316786.5:p.Leu318= | |
| ENST00000326152.5:c.953T= | ENSP00000316786.5:p.Leu318= | |
| NM_000196.3:c.953T= | NP_000187.3:p.Leu318= | |
| NM_000196.4:c.953T= MANE Select | NP_000187.3:p.Leu318= |