Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271236C>T , CM000668.2:g.31271236C>T | GRCh38 |
| NC_000006.11:g.31239013C>T , CM000668.1:g.31239013C>T | GRCh37 |
| NC_000006.10:g.31346992C>T | NCBI36 |
| NG_029422.2:g.5896G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.456G>A MANE Select | ENSP00000365402.5:p.Glu152= | |
| ENST00000376228.9:c.456G>A | ENSP00000365402.5:p.Glu152= | |
| ENST00000376237.8:c.*43G>A | ENSP00000365412.4:n.*43G>A | |
| ENST00000383329.7:c.456G>A | ENSP00000372819.3:p.Glu152= | |
| ENST00000415537.1:c.454G>A | ||
| ENST00000484378.1:n.725G>A | ||
| ENST00000487245.5:n.815G>A | ||
| ENST00000495835.1:n.645G>A | ||
| NM_002117.5:c.456G>A | NP_002108.4:p.Glu152= | |
| NM_002117.6:c.456G>A MANE Select | NP_002108.4:p.Glu152= |