Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370824G>A , CM000683.2:g.34370824G>A | GRCh38 |
| NC_000021.8:g.35743123G>A , CM000683.1:g.35743123G>A | GRCh37 |
| NC_000021.7:g.34664993G>A | NCBI36 |
| NG_008804.1:g.11801G>A , LRG_291:g.11801G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_172201.2:c.346G>A MANE Select | NP_751951.1:p.Ala116Thr |
| ENST00000290310.4:c.346G>A MANE Select | ENSP00000290310.2:p.Ala116Thr |
| NM_172201.1:c.346G>A , LRG_291t1:c.346G>A | NP_751951.1:p.Ala116Thr |
| ENST00000290310.3:c.346G>A | ENSP00000290310.2:p.Ala116Thr |
| XR_001755012.2:n.618C>T | |
| XR_001755013.2:n.497C>T | |
| XR_937683.1:n.497C>T | |
| XR_937683.2:n.497C>T | |
| XR_937684.1:n.497C>T |