Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269350T>G , CM000668.2:g.31269350T>G | GRCh38 |
| NC_000006.11:g.31237127T>G , CM000668.1:g.31237127T>G | GRCh37 |
| NC_000006.10:g.31345106T>G | NCBI36 |
| NG_029422.2:g.7782A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.1084A>C MANE Select | ENSP00000365402.5:p.Ile362Leu | |
| ENST00000376228.9:c.1084A>C | ENSP00000365402.5:p.Ile362Leu | |
| ENST00000376237.8:c.*671A>C | ENSP00000365412.4:n.*671A>C | |
| ENST00000383329.7:c.1102A>C | ENSP00000372819.3:p.Ile368Leu | |
| ENST00000466892.5:n.317A>C | ||
| ENST00000470363.5:n.842A>C | ||
| ENST00000487245.5:n.1443A>C | ||
| NM_002117.5:c.1084A>C | NP_002108.4:p.Ile362Leu | |
| NM_002117.6:c.1084A>C MANE Select | NP_002108.4:p.Ile362Leu |