Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370550C>A , CM000683.2:g.34370550C>A | GRCh38 |
| NC_000021.8:g.35742849C>A , CM000683.1:g.35742849C>A | GRCh37 |
| NC_000021.7:g.34664719C>A | NCBI36 |
| NG_008804.1:g.11527C>A , LRG_291:g.11527C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_172201.2:c.72C>A MANE Select | NP_751951.1:p.Asp24Glu |
| ENST00000290310.4:c.72C>A MANE Select | ENSP00000290310.2:p.Asp24Glu |
| NM_172201.1:c.72C>A , LRG_291t1:c.72C>A | NP_751951.1:p.Asp24Glu |
| ENST00000290310.3:c.72C>A | ENSP00000290310.2:p.Asp24Glu |
| XR_001755012.2:n.892G>T | |
| XR_001755013.2:n.771G>T | |
| XR_937683.1:n.771G>T | |
| XR_937683.2:n.771G>T | |
| XR_937684.1:n.771G>T |