Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319476A>T , CM000673.2:g.6319476A>T | GRCh38 |
| NC_000011.9:g.6340706A>T , CM000673.1:g.6340706A>T | GRCh37 |
| NC_000011.8:g.6297282A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_145040.3:c.473T>A MANE Select | NP_659477.2:p.Leu158Gln |
| ENST00000303927.4:c.473T>A MANE Select | ENSP00000307292.3:p.Leu158Gln |
| NM_145040.2:c.473T>A | NP_659477.2:p.Leu158Gln |
| ENST00000303927.3:c.473T>A | ENSP00000307292.3:p.Leu158Gln |
| ENST00000524852.1:n.259T>A | |
| ENST00000530979.1:c.569T>A | ENSP00000432047.1:p.Leu190Gln |
| ENST00000532354.1:n.495T>A | |
| XR_001748106.1:n.87A>T | |
| XR_242848.4:n.336A>T | |
| XR_930997.1:n.720+1256A>T |