Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.98604123C>G , CM000664.2:g.98604123C>G | GRCh38 |
| NC_000002.11:g.99220586C>G , CM000664.1:g.99220586C>G | GRCh37 |
| NC_000002.10:g.98587018C>G | NCBI36 |
| NG_031918.1:g.9396G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001008215.3:c.168G>C MANE Select | NP_001008216.1:p.Glu56Asp |
| ENST00000328709.8:c.168G>C MANE Select | ENSP00000330730.3:p.Glu56Asp |
| NM_001008215.2:c.168G>C | NP_001008216.1:p.Glu56Asp |
| ENST00000328709.7:c.168G>C | ENSP00000330730.3:p.Glu56Asp |
| ENST00000409997.1:c.168G>C | ENSP00000386934.1:p.Glu56Asp |
| ENST00000466848.1:n.145G>C | |
| ENST00000480666.1:n.668G>C | |
| ENST00000483527.5:n.314G>C |