Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.155279970G>T , CM000685.2:g.155279970G>T | GRCh38 |
| NC_000023.10:g.154509259G>T , CM000685.1:g.154509259G>T | GRCh37 |
| NC_000023.9:g.154162453G>T | NCBI36 |
| NG_012497.2:g.59708C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001289.6:c.392C>A MANE Select | NP_001280.3:p.Ala131Glu |
| ENST00000369449.7:c.392C>A MANE Select | ENSP00000358460.2:p.Ala131Glu |
| NM_001289.5:c.392C>A | NP_001280.3:p.Ala131Glu |
| ENST00000321926.4:c.266C>A | ENSP00000318558.4:p.Ala89Glu |
| ENST00000369449.6:c.392C>A | ENSP00000358460.2:p.Ala131Glu |
| ENST00000465553.5:n.507C>A | |
| ENST00000491205.1:n.446C>A |