Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271236C>A , CM000668.2:g.31271236C>A | GRCh38 |
| NC_000006.11:g.31239013C>A , CM000668.1:g.31239013C>A | GRCh37 |
| NC_000006.10:g.31346992C>A | NCBI36 |
| NG_029422.2:g.5896G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.456G>T MANE Select | ENSP00000365402.5:p.Glu152Asp | |
| ENST00000376228.9:c.456G>T | ENSP00000365402.5:p.Glu152Asp | |
| ENST00000376237.8:c.*43G>T | ENSP00000365412.4:n.*43G>T | |
| ENST00000383329.7:c.456G>T | ENSP00000372819.3:p.Glu152Asp | |
| ENST00000415537.1:c.454G>T | ||
| ENST00000484378.1:n.725G>T | ||
| ENST00000487245.5:n.815G>T | ||
| ENST00000495835.1:n.645G>T | ||
| NM_002117.5:c.456G>T | NP_002108.4:p.Glu152Asp | |
| NM_002117.6:c.456G>T MANE Select | NP_002108.4:p.Glu152Asp |