Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107945367T>C , CM000666.2:g.107945367T>C | GRCh38 |
| NC_000004.11:g.108866523T>C , CM000666.1:g.108866523T>C | GRCh37 |
| NC_000004.10:g.109085972T>C | NCBI36 |
| NG_007961.1:g.18807T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_183075.3:c.888T>C MANE Select | NP_898898.1:p.Ser296= |
| ENST00000332884.11:c.888T>C MANE Select | ENSP00000333212.6:p.Ser296= |
| NM_183075.2:c.888T>C | NP_898898.1:p.Ser296= |
| ENST00000332884.10:c.888T>C | ENSP00000333212.6:p.Ser296= |
| ENST00000508453.1:c.261T>C | ENSP00000423667.1:p.Ser87= |
| XM_005262717.2:c.942T>C | XP_005262774.1:p.Ser314= |
| XM_005262720.2:c.491-2009T>C | XP_005262777.1:n.491-2009T>C |
| XR_001741783.1:n.156-34818A>G | |
| XR_001741784.1:n.530+33353A>G |