Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58272835G= , CM000679.2:g.58272835G= | GRCh38 |
| NC_000017.10:g.56350196G= , CM000679.1:g.56350196G= | GRCh37 |
| NC_000017.9:g.53705195G= | NCBI36 |
| NG_009629.1:g.13101C= , LRG_84:g.13101C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000250.2:c.1705C= MANE Select | NP_000241.1:p.Arg569= |
| ENST00000225275.4:c.1705C= MANE Select | ENSP00000225275.3:p.Arg569= |
| NM_000250.1:c.1705C= , LRG_84t1:c.1705C= | NP_000241.1:p.Arg569= |
| ENST00000225275.3:c.1705C= | ENSP00000225275.3:p.Arg569= |
| ENST00000577220.1:c.163C= | ENSP00000464668.1:p.Arg55= |
| ENST00000578493.2:n.1038C= | |
| ENST00000699291.1:c.830C= | ENSP00000514272.1:n.830C= |
| ENST00000699292.1:n.1240C= | |
| XM_011524821.1:c.1891C= | XP_011523123.1:p.Arg631= |
| XM_011524822.1:c.1420C= | XP_011523124.1:p.Arg474= |