Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269989A= , CM000668.2:g.31269989A= | GRCh38 |
| NC_000006.11:g.31237766A= , CM000668.1:g.31237766A= | GRCh37 |
| NC_000006.10:g.31345745A= | NCBI36 |
| NG_029422.2:g.7143T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.992T= MANE Select | ENSP00000365402.5:p.Met331= | |
| ENST00000376228.9:c.992T= | ENSP00000365402.5:p.Met331= | |
| ENST00000376237.8:c.*579T= | ENSP00000365412.4:n.*579T= | |
| ENST00000383329.7:c.992T= | ENSP00000372819.3:p.Met331= | |
| ENST00000470363.5:n.310T= | ||
| ENST00000487245.5:n.1351T= | ||
| NM_002117.5:c.992T= | NP_002108.4:p.Met331= | |
| NM_002117.6:c.992T= MANE Select | NP_002108.4:p.Met331= |