Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785827T= , CM000681.2:g.18785827T= | GRCh38 |
| NC_000019.9:g.18896637T= , CM000681.1:g.18896637T= | GRCh37 |
| NC_000019.8:g.18757637T= | NCBI36 |
| NG_007070.1:g.10478A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1514A= MANE Select | ENSP00000222271.2:p.Gln505= | |
| ENST00000222271.6:c.1514A= | ENSP00000222271.2:p.Gln505= | |
| ENST00000425807.1:c.1355A= | ENSP00000403792.1:p.Gln452= | |
| ENST00000542601.6:c.1415A= | ENSP00000439156.2:p.Gln472= | |
| NM_000095.2:c.1514A= | NP_000086.2:p.Gln505= | |
| NM_000095.3:c.1514A= MANE Select | NP_000086.2:p.Gln505= |