Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63064294C= , CM000670.2:g.63064294C= | GRCh38 |
| NC_000008.10:g.63976853C= , CM000670.1:g.63976853C= | GRCh37 |
| NC_000008.9:g.64139407C= | NCBI36 |
| NG_016123.1:g.26760G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000370.3:c.575G= MANE Select | NP_000361.1:p.Arg192= |
| ENST00000260116.5:c.575G= MANE Select | ENSP00000260116.4:p.Arg192= |
| ENST00000260116.4:c.575G= | ENSP00000260116.4:p.Arg192= |
| ENST00000521138.1:n.233-15691G= | |
| XM_006716468.2:c.227G= | XP_006716531.1:p.Arg76= |
| XM_006716468.4:c.227G= | XP_006716531.1:p.Arg76= |