Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34364156G= , CM000683.2:g.34364156G= | GRCh38 |
| NC_000021.8:g.35736455G= , CM000683.1:g.35736455G= | GRCh37 |
| NC_000021.7:g.34658325G= | NCBI36 |
| NG_008804.1:g.5133G= , LRG_291:g.5133G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_172201.2:c.-13+5G= MANE Select | NP_751951.1:n.-13+5G= |
| ENST00000290310.4:c.-13+5G= MANE Select | ENSP00000290310.2:n.-13+5G= |
| NM_172201.1:c.-13+5G= , LRG_291t1:c.-13+5G= | NP_751951.1:n.-13+5G= |
| ENST00000290310.3:c.-13+5G= | ENSP00000290310.2:n.-13+5G= |
| XR_001755012.2:n.1672-2080C= | |
| XR_001755013.2:n.1551-2080C= | |
| XR_937683.1:n.1046-2080C= | |
| XR_937683.2:n.1046-2080C= | |
| XR_937684.1:n.1046-2080C= |