Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370898G>A , CM000683.2:g.34370898G>A | GRCh38 |
| NC_000021.8:g.35743197G>A , CM000683.1:g.35743197G>A | GRCh37 |
| NC_000021.7:g.34665067G>A | NCBI36 |
| NG_008804.1:g.11875G>A , LRG_291:g.11875G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290310.4:c.*48G>A MANE Select | ENSP00000290310.2:n.*48G>A | |
| ENST00000290310.3:c.*48G>A | ENSP00000290310.2:n.*48G>A | |
| NM_172201.1:c.*48G>A , LRG_291t1:c.*48G>A | NP_751951.1:n.*48G>A | |
| XR_937683.1:n.423C>T | ||
| XR_937684.1:n.423C>T | ||
| XR_001755012.2:n.544C>T | ||
| XR_001755013.2:n.423C>T | ||
| XR_937683.2:n.423C>T | ||
| NM_172201.2:c.*48G>A MANE Select | NP_751951.1:n.*48G>A |