Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6719285T= , CM000681.2:g.6719285T= | GRCh38 |
| NC_000019.9:g.6719296T= , CM000681.1:g.6719296T= | GRCh37 |
| NC_000019.8:g.6670296T= | NCBI36 |
| NG_009557.1:g.6367A= , LRG_27:g.6367A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.193A= MANE Select | NP_000055.2:p.Lys65= |
| ENST00000245907.11:c.193A= MANE Select | ENSP00000245907.4:p.Lys65= |
| NM_000064.3:c.193A= | NP_000055.2:p.Lys65= |
| ENST00000245907.10:c.193A= | ENSP00000245907.4:p.Lys65= |
| ENST00000594936.1:n.254A= | |
| ENST00000594936.2:n.254A= | |
| ENST00000600744.1:c.70A= | ENSP00000472044.1:p.Lys24= |
| ENST00000695652.1:c.70A= | ENSP00000512083.1:p.Lys24= |
| ENST00000695693.1:c.193A= | ENSP00000512104.1:p.Lys65= |