Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31268794A= , CM000668.2:g.31268794A= | GRCh38 |
| NC_000006.11:g.31236571A= , CM000668.1:g.31236571A= | GRCh37 |
| NC_000006.10:g.31344550A= | NCBI36 |
| NG_029422.2:g.8338T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.*375T= MANE Select | ENSP00000365402.5:n.*375T= | |
| ENST00000376228.9:c.*375T= | ENSP00000365402.5:n.*375T= | |
| ENST00000376237.8:c.*1063T= | ENSP00000365412.4:n.*1063T= | |
| ENST00000383329.7:c.*375T= | ENSP00000372819.3:n.*375T= | |
| ENST00000466892.5:n.709T= | ||
| ENST00000470363.5:n.1234T= | ||
| ENST00000487245.5:n.1835T= | ||
| NM_002117.5:c.*375T= | NP_002108.4:n.*375T= | |
| NM_002117.6:c.*375T= MANE Select | NP_002108.4:n.*375T= |