Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.134200817A>T , CM000666.2:g.134200817A>T | GRCh38 |
| NC_000004.11:g.135121972A>T , CM000666.1:g.135121972A>T | GRCh37 |
| NC_000004.10:g.135341422A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421491.4:c.203T>A MANE Select | ENSP00000463233.1:p.Leu68Gln | |
| ENST00000421491.3:c.203T>A | ENSP00000463233.1:p.Leu68Gln | |
| NM_001114734.1:c.377T>A | NP_001108206.2:p.Leu126Gln | |
| NM_001114734.2:c.203T>A MANE Select | NP_001108206.3:p.Leu68Gln | |
| NM_001363585.1:c.203T>A | NP_001350514.1:p.Leu68Gln | |
| XR_001741133.1:n.742T>A | ||
| XR_001741134.1:n.742T>A | ||
| XR_001741135.1:n.742T>A | ||
| XR_001741136.1:n.742T>A | ||
| XR_001741137.1:n.742T>A | ||
| XR_001741138.1:n.742T>A | ||
| XR_001741139.1:n.737T>A |