Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89776770T>C , CM000677.2:g.89776770T>C | GRCh38 |
| NC_000015.9:g.90320001T>C , CM000677.1:g.90320001T>C | GRCh37 |
| NC_000015.8:g.88121005T>C | NCBI36 |
| NG_008608.1:g.5413T>C | |
| NG_008608.2:g.21180T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341735.5:c.413T>C MANE Select | ENSP00000342392.3:p.Val138Ala | |
| ENST00000341735.3:c.413T>C | ENSP00000342392.3:p.Val138Ala | |
| ENST00000558723.1:n.39-1295T>C | ||
| ENST00000560219.2:c.31-1295T>C | ENSP00000452998.1:n.31-1295T>C | |
| NM_001039958.1:c.413T>C | NP_001035047.1:p.Val138Ala | |
| NM_001039958.2:c.413T>C MANE Select | NP_001035047.1:p.Val138Ala |