Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86575952A= , CM000670.2:g.86575952A= | GRCh38 |
| NC_000008.10:g.87588180A= , CM000670.1:g.87588180A= | GRCh37 |
| NC_000008.9:g.87657296A= | NCBI36 |
| NG_016980.1:g.172724T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.2282T= MANE Select | ENSP00000316605.5:p.Ile761= | |
| ENST00000681546.1:n.2102T= | ||
| ENST00000681746.1:c.*693T= | ENSP00000505959.1:n.*693T= | |
| ENST00000320005.5:c.2282T= | ENSP00000316605.5:p.Ile761= | |
| ENST00000517327.5:c.276+2737T= | ENSP00000428329.1:n.276+2737T= | |
| NM_019098.4:c.2282T= | NP_061971.3:p.Ile761= | |
| XM_011517138.1:c.1868T= | XP_011515440.1:p.Ile623= | |
| XM_011517138.2:c.1868T= | XP_011515440.1:p.Ile623= | |
| NM_019098.5:c.2282T= MANE Select | NP_061971.3:p.Ile761= |