Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84425585C>T , CM000664.2:g.84425585C>T | GRCh38 |
| NC_000002.11:g.84652709C>T , CM000664.1:g.84652709C>T | GRCh37 |
| NC_000002.10:g.84506220C>T | NCBI36 |
| NG_016755.1:g.38878G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003849.4:c.844G>A MANE Select | NP_003840.2:p.Val282Ile |
| ENST00000393868.7:c.844G>A MANE Select | ENSP00000377446.2:p.Val282Ile |
| NM_003849.3:c.844G>A | NP_003840.2:p.Val282Ile |
| ENST00000393868.6:c.844G>A | ENSP00000377446.2:p.Val282Ile |
| ENST00000484365.1:n.1352G>A | |
| ENST00000487809.1:n.591G>A | |
| ENST00000491123.5:n.690G>A | |
| ENST00000651342.1:c.*284G>A | ENSP00000498471.1:n.*284G>A |