Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270382C>A , CM000668.2:g.31270382C>A | GRCh38 |
| NC_000006.11:g.31238159C>A , CM000668.1:g.31238159C>A | GRCh37 |
| NC_000006.10:g.31346138C>A | NCBI36 |
| NG_029422.2:g.6750G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.723G>T MANE Select | ENSP00000365402.5:p.Trp241Cys | |
| ENST00000376228.9:c.723G>T | ENSP00000365402.5:p.Trp241Cys | |
| ENST00000376237.8:c.*310G>T | ENSP00000365412.4:n.*310G>T | |
| ENST00000383329.7:c.723G>T | ENSP00000372819.3:p.Trp241Cys | |
| ENST00000415537.1:c.665-51G>T | ||
| ENST00000470363.5:n.41G>T | ||
| ENST00000487245.5:n.1082G>T | ||
| ENST00000495835.1:n.912G>T | ||
| NM_002117.5:c.723G>T | NP_002108.4:p.Trp241Cys | |
| NM_002117.6:c.723G>T MANE Select | NP_002108.4:p.Trp241Cys |