Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269036C>A , CM000668.2:g.31269036C>A | GRCh38 |
| NC_000006.11:g.31236813C>A , CM000668.1:g.31236813C>A | GRCh37 |
| NC_000006.10:g.31344792C>A | NCBI36 |
| NG_029422.2:g.8096G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002117.6:c.*133G>T MANE Select | NP_002108.4:n.*133G>T |
| ENST00000376228.10:c.*133G>T MANE Select | ENSP00000365402.5:n.*133G>T |
| NM_002117.5:c.*133G>T | NP_002108.4:n.*133G>T |
| ENST00000376228.9:c.*133G>T | ENSP00000365402.5:n.*133G>T |
| ENST00000376237.8:c.*821G>T | ENSP00000365412.4:n.*821G>T |
| ENST00000383329.7:c.*133G>T | ENSP00000372819.3:n.*133G>T |
| ENST00000466892.5:n.467G>T | |
| ENST00000470363.5:n.992G>T | |
| ENST00000487245.5:n.1593G>T |