Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269347T>G , CM000668.2:g.31269347T>G | GRCh38 |
| NC_000006.11:g.31237124T>G , CM000668.1:g.31237124T>G | GRCh37 |
| NC_000006.10:g.31345103T>G | NCBI36 |
| NG_029422.2:g.7785A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002117.6:c.1087A>C MANE Select | NP_002108.4:p.Thr363Pro |
| ENST00000376228.10:c.1087A>C MANE Select | ENSP00000365402.5:p.Thr363Pro |
| NM_002117.5:c.1087A>C | NP_002108.4:p.Thr363Pro |
| ENST00000376228.9:c.1087A>C | ENSP00000365402.5:p.Thr363Pro |
| ENST00000376237.8:c.*674A>C | ENSP00000365412.4:n.*674A>C |
| ENST00000383329.7:c.1105A>C | ENSP00000372819.3:p.Thr369Pro |
| ENST00000466892.5:n.320A>C | |
| ENST00000470363.5:n.845A>C | |
| ENST00000487245.5:n.1446A>C |