Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.134200566T= , CM000666.2:g.134200566T= | GRCh38 |
| NC_000004.11:g.135121721T= , CM000666.1:g.135121721T= | GRCh37 |
| NC_000004.10:g.135341171T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001114734.2:c.454A= MANE Select | NP_001108206.3:p.Arg152= |
| ENST00000421491.4:c.454A= MANE Select | ENSP00000463233.1:p.Arg152= |
| NM_001114734.1:c.628A= | NP_001108206.2:p.Arg210= |
| NM_001363585.1:c.454A= | NP_001350514.1:p.Arg152= |
| ENST00000421491.3:c.454A= | ENSP00000463233.1:p.Arg152= |
| XR_001741133.1:n.993A= | |
| XR_001741134.1:n.993A= | |
| XR_001741135.1:n.993A= | |
| XR_001741136.1:n.993A= | |
| XR_001741137.1:n.993A= | |
| XR_001741138.1:n.993A= | |
| XR_001741139.1:n.988A= |