Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41571515G= , CM000679.2:g.41571515G= | GRCh38 |
| NC_000017.10:g.39727767G= , CM000679.1:g.39727767G= | GRCh37 |
| NC_000017.9:g.36981293G= | NCBI36 |
| NG_008300.1:g.5544C= | |
| NG_008300.2:g.5544C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000226.4:c.478C= MANE Select | NP_000217.2:p.Leu160= |
| ENST00000246662.9:c.478C= MANE Select | ENSP00000246662.4:p.Leu160= |
| NM_000226.3:c.478C= | NP_000217.2:p.Leu160= |
| ENST00000246662.8:c.478C= | ENSP00000246662.4:p.Leu160= |
| ENST00000588431.1:c.-189-33C= | ENSP00000467932.1:n.-189-33C= |