Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.134200877C>T , CM000666.2:g.134200877C>T | GRCh38 |
| NC_000004.11:g.135122032C>T , CM000666.1:g.135122032C>T | GRCh37 |
| NC_000004.10:g.135341482C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421491.4:c.143G>A MANE Select | ENSP00000463233.1:p.Arg48His | |
| ENST00000421491.3:c.143G>A | ENSP00000463233.1:p.Arg48His | |
| NM_001114734.1:c.317G>A | NP_001108206.2:p.Arg106His | |
| NM_001114734.2:c.143G>A MANE Select | NP_001108206.3:p.Arg48His | |
| NM_001363585.1:c.143G>A | NP_001350514.1:p.Arg48His | |
| XR_001741133.1:n.682G>A | ||
| XR_001741134.1:n.682G>A | ||
| XR_001741135.1:n.682G>A | ||
| XR_001741136.1:n.682G>A | ||
| XR_001741137.1:n.682G>A | ||
| XR_001741138.1:n.682G>A | ||
| XR_001741139.1:n.677G>A |