Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44352475G>T , CM000679.2:g.44352475G>T | GRCh38 |
| NC_000017.10:g.42429843G>T , CM000679.1:g.42429843G>T | GRCh37 |
| NC_000017.9:g.39785369G>T | NCBI36 |
| NG_007886.1:g.12353G>T , LRG_661:g.12353G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002087.4:c.1548G>T MANE Select | NP_002078.1:p.Val516= |
| ENST00000053867.8:c.1548G>T MANE Select | ENSP00000053867.2:p.Val516= |
| NM_002087.3:c.1548G>T | NP_002078.1:p.Val516= |
| ENST00000053867.7:c.1548G>T | ENSP00000053867.2:p.Val516= |
| ENST00000586242.1:c.182G>T | |
| ENST00000586443.1:c.989G>T | |
| ENST00000589265.5:c.1077G>T | ENSP00000467616.1:p.Val359= |
| ENST00000639447.1:c.1137-54G>T | ENSP00000492014.1:n.1137-54G>T |
| XM_005257253.1:c.1548G>T | XP_005257310.1:p.Val516= |
| XM_024450730.1:c.1548G>T | XP_024306498.1:p.Val516= |