Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271237T= , CM000668.2:g.31271237T= | GRCh38 |
| NC_000006.11:g.31239014T= , CM000668.1:g.31239014T= | GRCh37 |
| NC_000006.10:g.31346993T= | NCBI36 |
| NG_029422.2:g.5895A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.455A= MANE Select | ENSP00000365402.5:p.Glu152= | |
| ENST00000376228.9:c.455A= | ENSP00000365402.5:p.Glu152= | |
| ENST00000376237.8:c.*42A= | ENSP00000365412.4:n.*42A= | |
| ENST00000383329.7:c.455A= | ENSP00000372819.3:p.Glu152= | |
| ENST00000415537.1:c.453A= | ||
| ENST00000484378.1:n.724A= | ||
| ENST00000487245.5:n.814A= | ||
| ENST00000495835.1:n.644A= | ||
| NM_002117.5:c.455A= | NP_002108.4:p.Glu152= | |
| NM_002117.6:c.455A= MANE Select | NP_002108.4:p.Glu152= |