Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271141A>T , CM000668.2:g.31271141A>T | GRCh38 |
| NC_000006.11:g.31238918A>T , CM000668.1:g.31238918A>T | GRCh37 |
| NC_000006.10:g.31346897A>T | NCBI36 |
| NG_029422.2:g.5991T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.551T>A MANE Select | ENSP00000365402.5:p.Leu184Gln | |
| ENST00000376228.9:c.551T>A | ENSP00000365402.5:p.Leu184Gln | |
| ENST00000376237.8:c.*138T>A | ENSP00000365412.4:n.*138T>A | |
| ENST00000383329.7:c.551T>A | ENSP00000372819.3:p.Leu184Gln | |
| ENST00000415537.1:c.549T>A | ||
| ENST00000484378.1:n.820T>A | ||
| ENST00000487245.5:n.910T>A | ||
| ENST00000495835.1:n.740T>A | ||
| NM_002117.5:c.551T>A | NP_002108.4:p.Leu184Gln | |
| NM_002117.6:c.551T>A MANE Select | NP_002108.4:p.Leu184Gln |