Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46739326G= , CM000673.2:g.46739326G= | GRCh38 |
| NC_000011.9:g.46760876G= , CM000673.1:g.46760876G= | GRCh37 |
| NC_000011.8:g.46717452G= | NCBI36 |
| NG_008953.1:g.25134G= , LRG_551:g.25134G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000506.5:c.1787G= MANE Select | NP_000497.1:p.Arg596= |
| ENST00000311907.10:c.1787G= MANE Select | ENSP00000308541.5:p.Arg596= |
| NM_000506.3:c.1787G= | NP_000497.1:p.Arg596= |
| NM_000506.4:c.1787G= , LRG_551t1:c.1787G= | NP_000497.1:p.Arg596= |
| NM_001311257.1:c.1739G= | NP_001298186.1:p.Arg580= |
| NM_001311257.2:c.1739G= | NP_001298186.1:p.Arg580= |
| ENST00000311907.9:c.1787G= | ENSP00000308541.5:p.Arg596= |
| ENST00000530231.5:c.1670G= | ENSP00000433907.1:p.Arg557= |
| XR_428840.2:n.1649G= | |
| XR_428840.4:n.1640G= |