Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107945523T>C , CM000666.2:g.107945523T>C | GRCh38 |
| NC_000004.11:g.108866679T>C , CM000666.1:g.108866679T>C | GRCh37 |
| NC_000004.10:g.109086128T>C | NCBI36 |
| NG_007961.1:g.18963T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_183075.3:c.1044T>C MANE Select | NP_898898.1:p.Asp348= |
| ENST00000332884.11:c.1044T>C MANE Select | ENSP00000333212.6:p.Asp348= |
| NM_183075.2:c.1044T>C | NP_898898.1:p.Asp348= |
| ENST00000332884.10:c.1044T>C | ENSP00000333212.6:p.Asp348= |
| ENST00000508453.1:c.417T>C | ENSP00000423667.1:p.Asp139= |
| XM_005262717.2:c.1098T>C | XP_005262774.1:p.Asp366= |
| XM_005262720.2:c.491-1853T>C | XP_005262777.1:n.491-1853T>C |
| XR_001741783.1:n.156-34974A>G | |
| XR_001741784.1:n.530+33197A>G |