Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370349G>A , CM000683.2:g.34370349G>A | GRCh38 |
| NC_000021.8:g.35742648G>A , CM000683.1:g.35742648G>A | GRCh37 |
| NC_000021.7:g.34664518G>A | NCBI36 |
| NG_008804.1:g.11326G>A , LRG_291:g.11326G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290310.4:c.-12-118G>A MANE Select | ENSP00000290310.2:n.-12-118G>A | |
| ENST00000290310.3:c.-12-118G>A | ENSP00000290310.2:n.-12-118G>A | |
| NM_172201.1:c.-12-118G>A , LRG_291t1:c.-12-118G>A | NP_751951.1:n.-12-118G>A | |
| XR_937683.1:n.886+86C>T | ||
| XR_937684.1:n.886+86C>T | ||
| XR_001755012.2:n.1093C>T | ||
| XR_001755013.2:n.972C>T | ||
| XR_937683.2:n.886+86C>T | ||
| NM_172201.2:c.-12-118G>A MANE Select | NP_751951.1:n.-12-118G>A |