Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271105A>T , CM000668.2:g.31271105A>T | GRCh38 |
| NC_000006.11:g.31238882A>T , CM000668.1:g.31238882A>T | GRCh37 |
| NC_000006.10:g.31346861A>T | NCBI36 |
| NG_029422.2:g.6027T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.587T>A MANE Select | ENSP00000365402.5:p.Leu196Gln | |
| ENST00000376228.9:c.587T>A | ENSP00000365402.5:p.Leu196Gln | |
| ENST00000376237.8:c.*174T>A | ENSP00000365412.4:n.*174T>A | |
| ENST00000383329.7:c.587T>A | ENSP00000372819.3:p.Leu196Gln | |
| ENST00000415537.1:c.585T>A | ||
| ENST00000484378.1:n.856T>A | ||
| ENST00000487245.5:n.946T>A | ||
| ENST00000495835.1:n.776T>A | ||
| NM_002117.5:c.587T>A | NP_002108.4:p.Leu196Gln | |
| NM_002117.6:c.587T>A MANE Select | NP_002108.4:p.Leu196Gln |