Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.98604124T>C , CM000664.2:g.98604124T>C | GRCh38 |
| NC_000002.11:g.99220587T>C , CM000664.1:g.99220587T>C | GRCh37 |
| NC_000002.10:g.98587019T>C | NCBI36 |
| NG_031918.1:g.9395A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001008215.3:c.167A>G MANE Select | NP_001008216.1:p.Glu56Gly |
| ENST00000328709.8:c.167A>G MANE Select | ENSP00000330730.3:p.Glu56Gly |
| NM_001008215.2:c.167A>G | NP_001008216.1:p.Glu56Gly |
| ENST00000328709.7:c.167A>G | ENSP00000330730.3:p.Glu56Gly |
| ENST00000409997.1:c.167A>G | ENSP00000386934.1:p.Glu56Gly |
| ENST00000466848.1:n.144A>G | |
| ENST00000480666.1:n.667A>G | |
| ENST00000483527.5:n.313A>G |