Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86576010T= , CM000670.2:g.86576010T= | GRCh38 |
| NC_000008.10:g.87588238T= , CM000670.1:g.87588238T= | GRCh37 |
| NC_000008.9:g.87657354T= | NCBI36 |
| NG_016980.1:g.172666A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019098.5:c.2224A= MANE Select | NP_061971.3:p.Lys742= |
| ENST00000320005.6:c.2224A= MANE Select | ENSP00000316605.5:p.Lys742= |
| NM_019098.4:c.2224A= | NP_061971.3:p.Lys742= |
| ENST00000320005.5:c.2224A= | ENSP00000316605.5:p.Lys742= |
| ENST00000517327.5:c.276+2679A= | ENSP00000428329.1:n.276+2679A= |
| ENST00000681546.1:n.2044A= | |
| ENST00000681746.1:c.*635A= | ENSP00000505959.1:n.*635A= |
| XM_011517138.1:c.1810A= | XP_011515440.1:p.Lys604= |
| XM_011517138.2:c.1810A= | XP_011515440.1:p.Lys604= |