Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436635C= , CM000678.2:g.67436635C= | GRCh38 |
| NC_000016.9:g.67470538C= , CM000678.1:g.67470538C= | GRCh37 |
| NC_000016.8:g.66028039C= | NCBI36 |
| NG_011482.1:g.49552G= | |
| NG_016549.1:g.10503C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.850C= MANE Select | ENSP00000316786.5:p.Leu284= | |
| ENST00000326152.5:c.850C= | ENSP00000316786.5:p.Leu284= | |
| NM_000196.3:c.850C= | NP_000187.3:p.Leu284= | |
| NM_000196.4:c.850C= MANE Select | NP_000187.3:p.Leu284= |