Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86575970T= , CM000670.2:g.86575970T= | GRCh38 |
| NC_000008.10:g.87588198T= , CM000670.1:g.87588198T= | GRCh37 |
| NC_000008.9:g.87657314T= | NCBI36 |
| NG_016980.1:g.172706A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019098.5:c.2264A= MANE Select | NP_061971.3:p.Glu755= |
| ENST00000320005.6:c.2264A= MANE Select | ENSP00000316605.5:p.Glu755= |
| NM_019098.4:c.2264A= | NP_061971.3:p.Glu755= |
| ENST00000320005.5:c.2264A= | ENSP00000316605.5:p.Glu755= |
| ENST00000517327.5:c.276+2719A= | ENSP00000428329.1:n.276+2719A= |
| ENST00000681546.1:n.2084A= | |
| ENST00000681746.1:c.*675A= | ENSP00000505959.1:n.*675A= |
| XM_011517138.1:c.1850A= | XP_011515440.1:p.Glu617= |
| XM_011517138.2:c.1850A= | XP_011515440.1:p.Glu617= |