Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58272841C= , CM000679.2:g.58272841C= | GRCh38 |
| NC_000017.10:g.56350202C= , CM000679.1:g.56350202C= | GRCh37 |
| NC_000017.9:g.53705201C= | NCBI36 |
| NG_009629.1:g.13095G= , LRG_84:g.13095G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000578493.2:n.1032G= | ||
| ENST00000699291.1:c.824G= | ENSP00000514272.1:n.824G= | |
| ENST00000699292.1:n.1234G= | ||
| ENST00000225275.4:c.1699G= MANE Select | ENSP00000225275.3:p.Glu567= | |
| ENST00000225275.3:c.1699G= | ENSP00000225275.3:p.Glu567= | |
| ENST00000577220.1:c.157G= | ENSP00000464668.1:p.Glu53= | |
| NM_000250.1:c.1699G= , LRG_84t1:c.1699G= | NP_000241.1:p.Glu567= | |
| XM_011524821.1:c.1885G= | XP_011523123.1:p.Glu629= | |
| XM_011524822.1:c.1414G= | XP_011523124.1:p.Glu472= | |
| NM_000250.2:c.1699G= MANE Select | NP_000241.1:p.Glu567= |