Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47299316C= , CM000679.2:g.47299316C= | GRCh38 |
| NC_000017.10:g.45376682C= , CM000679.1:g.45376682C= | GRCh37 |
| NC_000017.9:g.42731681C= | NCBI36 |
| NG_008332.2:g.50475C= , LRG_481:g.50475C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000212.3:c.1699C= MANE Select | NP_000203.2:p.Gln567= |
| ENST00000559488.7:c.1699C= MANE Select | ENSP00000452786.2:p.Gln567= |
| NM_000212.2:c.1699C= , LRG_481t1:c.1699C= | NP_000203.2:p.Gln567= |
| ENST00000559488.5:c.1699C= | ENSP00000452786.1:p.Gln567= |
| ENST00000560629.1:c.1664C= | |
| ENST00000696963.1:c.1699C= | ENSP00000513002.1:p.Gln567= |