Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271312A>T , CM000668.2:g.31271312A>T | GRCh38 |
| NC_000006.11:g.31239089A>T , CM000668.1:g.31239089A>T | GRCh37 |
| NC_000006.10:g.31347068A>T | NCBI36 |
| NG_029422.2:g.5820T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.380T>A MANE Select | ENSP00000365402.5:p.Leu127Gln | |
| ENST00000376228.9:c.380T>A | ENSP00000365402.5:p.Leu127Gln | |
| ENST00000376237.8:c.363T>A | ENSP00000365412.4:p.Pro121= | |
| ENST00000383329.7:c.380T>A | ENSP00000372819.3:p.Leu127Gln | |
| ENST00000415537.1:c.378T>A | ||
| ENST00000484378.1:n.649T>A | ||
| ENST00000487245.5:n.739T>A | ||
| ENST00000495835.1:n.569T>A | ||
| NM_002117.5:c.380T>A | NP_002108.4:p.Leu127Gln | |
| NM_002117.6:c.380T>A MANE Select | NP_002108.4:p.Leu127Gln |