Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84425585C= , CM000664.2:g.84425585C= | GRCh38 |
| NC_000002.11:g.84652709C= , CM000664.1:g.84652709C= | GRCh37 |
| NC_000002.10:g.84506220C= | NCBI36 |
| NG_016755.1:g.38878G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.844G= MANE Select | ENSP00000377446.2:p.Val282= | |
| ENST00000651342.1:c.*284G= | ENSP00000498471.1:n.*284G= | |
| ENST00000393868.6:c.844G= | ENSP00000377446.2:p.Val282= | |
| ENST00000484365.1:n.1352G= | ||
| ENST00000487809.1:n.591G= | ||
| ENST00000491123.5:n.690G= | ||
| NM_003849.3:c.844G= | NP_003840.2:p.Val282= | |
| NM_003849.4:c.844G= MANE Select | NP_003840.2:p.Val282= |