Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269031C>A , CM000668.2:g.31269031C>A | GRCh38 |
| NC_000006.11:g.31236808C>A , CM000668.1:g.31236808C>A | GRCh37 |
| NC_000006.10:g.31344787C>A | NCBI36 |
| NG_029422.2:g.8101G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002117.6:c.*138G>T MANE Select | NP_002108.4:n.*138G>T |
| ENST00000376228.10:c.*138G>T MANE Select | ENSP00000365402.5:n.*138G>T |
| NM_002117.5:c.*138G>T | NP_002108.4:n.*138G>T |
| ENST00000376228.9:c.*138G>T | ENSP00000365402.5:n.*138G>T |
| ENST00000376237.8:c.*826G>T | ENSP00000365412.4:n.*826G>T |
| ENST00000383329.7:c.*138G>T | ENSP00000372819.3:n.*138G>T |
| ENST00000466892.5:n.472G>T | |
| ENST00000470363.5:n.997G>T | |
| ENST00000487245.5:n.1598G>T |