Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23804441C= , CM000663.2:g.23804441C= | GRCh38 |
| NC_000001.10:g.24130931C= , CM000663.1:g.24130931C= | GRCh37 |
| NC_000001.9:g.24003518C= | NCBI36 |
| NG_007068.1:g.1364G= | |
| NG_013061.1:g.26019G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374490.8:c.835G= MANE Select | ENSP00000363614.3:p.Glu279= | |
| ENST00000235958.4:c.405G= | ||
| ENST00000374487.6:c.*876G= | ENSP00000363611.2:n.*876G= | |
| ENST00000374490.7:c.835G= | ENSP00000363614.3:p.Glu279= | |
| ENST00000436439.6:c.622G= | ENSP00000389281.2:p.Glu208= | |
| ENST00000509389.5:n.526G= | ||
| NM_000191.2:c.835G= | NP_000182.2:p.Glu279= | |
| NM_001166059.1:c.622G= | NP_001159531.1:p.Glu208= | |
| NM_000191.3:c.835G= MANE Select | NP_000182.2:p.Glu279= | |
| NM_001166059.2:c.622G= | NP_001159531.1:p.Glu208= |