Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370675C>A , CM000683.2:g.34370675C>A | GRCh38 |
| NC_000021.8:g.35742974C>A , CM000683.1:g.35742974C>A | GRCh37 |
| NC_000021.7:g.34664844C>A | NCBI36 |
| NG_008804.1:g.11652C>A , LRG_291:g.11652C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290310.4:c.197C>A MANE Select | ENSP00000290310.2:p.Ala66Asp | |
| ENST00000290310.3:c.197C>A | ENSP00000290310.2:p.Ala66Asp | |
| NM_172201.1:c.197C>A , LRG_291t1:c.197C>A | NP_751951.1:p.Ala66Asp | |
| XR_937683.1:n.646G>T | ||
| XR_937684.1:n.646G>T | ||
| XR_001755012.2:n.767G>T | ||
| XR_001755013.2:n.646G>T | ||
| XR_937683.2:n.646G>T | ||
| NM_172201.2:c.197C>A MANE Select | NP_751951.1:p.Ala66Asp |