Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44352445C>T , CM000679.2:g.44352445C>T | GRCh38 |
| NC_000017.10:g.42429813C>T , CM000679.1:g.42429813C>T | GRCh37 |
| NC_000017.9:g.39785339C>T | NCBI36 |
| NG_007886.1:g.12323C>T , LRG_661:g.12323C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002087.4:c.1518C>T MANE Select | NP_002078.1:p.Thr506= |
| ENST00000053867.8:c.1518C>T MANE Select | ENSP00000053867.2:p.Thr506= |
| NM_002087.3:c.1518C>T | NP_002078.1:p.Thr506= |
| ENST00000053867.7:c.1518C>T | ENSP00000053867.2:p.Thr506= |
| ENST00000586242.1:c.152C>T | |
| ENST00000586443.1:c.959C>T | |
| ENST00000589265.5:c.1047C>T | ENSP00000467616.1:p.Thr349= |
| ENST00000639447.1:c.1137-84C>T | ENSP00000492014.1:n.1137-84C>T |
| XM_005257253.1:c.1518C>T | XP_005257310.1:p.Thr506= |
| XM_024450730.1:c.1518C>T | XP_024306498.1:p.Thr506= |