Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271133T= , CM000668.2:g.31271133T= | GRCh38 |
| NC_000006.11:g.31238910T= , CM000668.1:g.31238910T= | GRCh37 |
| NC_000006.10:g.31346889T= | NCBI36 |
| NG_029422.2:g.5999A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.559A= MANE Select | ENSP00000365402.5:p.Thr187= | |
| ENST00000376228.9:c.559A= | ENSP00000365402.5:p.Thr187= | |
| ENST00000376237.8:c.*146A= | ENSP00000365412.4:n.*146A= | |
| ENST00000383329.7:c.559A= | ENSP00000372819.3:p.Thr187= | |
| ENST00000415537.1:c.557A= | ||
| ENST00000484378.1:n.828A= | ||
| ENST00000487245.5:n.918A= | ||
| ENST00000495835.1:n.748A= | ||
| NM_002117.5:c.559A= | NP_002108.4:p.Thr187= | |
| NM_002117.6:c.559A= MANE Select | NP_002108.4:p.Thr187= |