Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31595177A>C , CM000680.2:g.31595177A>C | GRCh38 |
| NC_000018.9:g.29175140A>C , CM000680.1:g.29175140A>C | GRCh37 |
| NC_000018.8:g.27429138A>C | NCBI36 |
| NG_009490.1:g.8411A>C , LRG_416:g.8411A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000371.4:c.258A>C MANE Select | NP_000362.1:p.Glu86Asp |
| ENST00000237014.8:c.258A>C MANE Select | ENSP00000237014.4:p.Glu86Asp |
| NM_000371.3:c.258A>C , LRG_416t1:c.258A>C | NP_000362.1:p.Glu86Asp |
| ENST00000237014.7:c.258A>C | ENSP00000237014.3:p.Glu86Asp |
| ENST00000541025.2:n.284A>C | |
| ENST00000610404.4:c.258A>C | ENSP00000477599.1:p.Glu86Asp |
| ENST00000610404.5:c.162A>C | ENSP00000477599.2:p.Glu54Asp |
| ENST00000613781.1:c.258A>C | ENSP00000479174.1:p.Glu86Asp |
| ENST00000649620.1:c.258A>C | ENSP00000497927.1:p.Glu86Asp |