Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107949452C>G , CM000666.2:g.107949452C>G | GRCh38 |
| NC_000004.11:g.108870608C>G , CM000666.1:g.108870608C>G | GRCh37 |
| NC_000004.10:g.109090057C>G | NCBI36 |
| NG_007961.1:g.22892C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_183075.3:c.1391C>G MANE Select | NP_898898.1:p.Pro464Arg |
| ENST00000332884.11:c.1391C>G MANE Select | ENSP00000333212.6:p.Pro464Arg |
| NM_183075.2:c.1391C>G | NP_898898.1:p.Pro464Arg |
| ENST00000332884.10:c.1391C>G | ENSP00000333212.6:p.Pro464Arg |
| ENST00000508453.1:c.764C>G | ENSP00000423667.1:p.Pro255Arg |
| XM_005262717.2:c.1445C>G | XP_005262774.1:p.Pro482Arg |
| XM_005262720.2:c.755C>G | XP_005262777.1:p.Pro252Arg |
| XR_001741783.1:n.156-38903G>C | |
| XR_001741784.1:n.530+29268G>C |