Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55151893G= , CM000681.2:g.55151893G= | GRCh38 |
| NC_000019.9:g.55663261G= , CM000681.1:g.55663261G= | GRCh37 |
| NC_000019.8:g.60355073G= | NCBI36 |
| NG_007866.2:g.10840C= , LRG_432:g.10840C= | |
| NG_011829.2:g.2346C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000363.5:c.574C= MANE Select | NP_000354.4:p.Arg192= |
| ENST00000344887.10:c.574C= MANE Select | ENSP00000341838.5:p.Arg192= |
| NM_000363.4:c.574C= , LRG_432t1:c.574C= | NP_000354.4:p.Arg192= |
| ENST00000344887.9:c.574C= | ENSP00000341838.5:p.Arg192= |
| ENST00000585806.5:n.573C= | |
| ENST00000588882.1:c.499C= | ENSP00000466729.1:p.Arg167= |
| ENST00000589864.1:n.402C= | |
| ENST00000665070.1:c.607C= | ENSP00000499482.1:p.Arg203= |