Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43551574T= , CM000681.2:g.43551574T= | GRCh38 |
| NC_000019.9:g.44055726T= , CM000681.1:g.44055726T= | GRCh37 |
| NC_000019.8:g.48747566T= | NCBI36 |
| NG_033799.1:g.29005A= , LRG_784:g.29005A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262887.10:c.1196A= MANE Select | ENSP00000262887.5:p.Gln399= | |
| ENST00000262887.9:c.1196A= | ENSP00000262887.4:p.Gln399= | |
| ENST00000543982.5:c.1103A= | ENSP00000443671.1:p.Gln368= | |
| ENST00000597811.5:c.806A= | ||
| NM_006297.2:c.1196A= , LRG_784t1:c.1196A= | NP_006288.2:p.Gln399= | |
| NM_006297.3:c.1196A= MANE Select | NP_006288.2:p.Gln399= |