Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42909128G= , CM000679.2:g.42909128G= | GRCh38 |
| NC_000017.10:g.41061145G= , CM000679.1:g.41061145G= | GRCh37 |
| NC_000017.9:g.38314671G= | NCBI36 |
| NG_011808.1:g.13331G= , LRG_147:g.13331G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.447-175G= MANE Select | ENSP00000253801.1:n.447-175G= | |
| ENST00000253801.6:c.447-175G= | ENSP00000253801.1:n.447-175G= | |
| ENST00000585489.1:c.446+1500G= | ENSP00000466202.1:n.446+1500G= | |
| ENST00000592383.5:c.370-175G= | ENSP00000465958.1:n.370-175G= | |
| NM_000151.3:c.447-175G= | NP_000142.2:n.447-175G= | |
| NM_001270397.1:c.370-175G= | NP_001257326.1:n.370-175G= | |
| NM_000151.4:c.447-175G= MANE Select | NP_000142.2:n.447-175G= | |
| NM_001270397.2:c.370-175G= | NP_001257326.1:n.370-175G= |