Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86576047T= , CM000670.2:g.86576047T= | GRCh38 |
| NC_000008.10:g.87588275T= , CM000670.1:g.87588275T= | GRCh37 |
| NC_000008.9:g.87657391T= | NCBI36 |
| NG_016980.1:g.172629A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.2187A= MANE Select | ENSP00000316605.5:p.Glu729= | |
| ENST00000681546.1:n.2007A= | ||
| ENST00000681746.1:c.*598A= | ENSP00000505959.1:n.*598A= | |
| ENST00000320005.5:c.2187A= | ENSP00000316605.5:p.Glu729= | |
| ENST00000517327.5:c.276+2642A= | ENSP00000428329.1:n.276+2642A= | |
| NM_019098.4:c.2187A= | NP_061971.3:p.Glu729= | |
| XM_011517138.1:c.1773A= | XP_011515440.1:p.Glu591= | |
| XM_011517138.2:c.1773A= | XP_011515440.1:p.Glu591= | |
| NM_019098.5:c.2187A= MANE Select | NP_061971.3:p.Glu729= |