Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271105A= , CM000668.2:g.31271105A= | GRCh38 |
| NC_000006.11:g.31238882A= , CM000668.1:g.31238882A= | GRCh37 |
| NC_000006.10:g.31346861A= | NCBI36 |
| NG_029422.2:g.6027T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.587T= MANE Select | ENSP00000365402.5:p.Leu196= | |
| ENST00000376228.9:c.587T= | ENSP00000365402.5:p.Leu196= | |
| ENST00000376237.8:c.*174T= | ENSP00000365412.4:n.*174T= | |
| ENST00000383329.7:c.587T= | ENSP00000372819.3:p.Leu196= | |
| ENST00000415537.1:c.585T= | ||
| ENST00000484378.1:n.856T= | ||
| ENST00000487245.5:n.946T= | ||
| ENST00000495835.1:n.776T= | ||
| NM_002117.5:c.587T= | NP_002108.4:p.Leu196= | |
| NM_002117.6:c.587T= MANE Select | NP_002108.4:p.Leu196= |