Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370503C= , CM000683.2:g.34370503C= | GRCh38 |
| NC_000021.8:g.35742802C= , CM000683.1:g.35742802C= | GRCh37 |
| NC_000021.7:g.34664672C= | NCBI36 |
| NG_008804.1:g.11480C= , LRG_291:g.11480C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_172201.2:c.25C= MANE Select | NP_751951.1:p.Gln9= |
| ENST00000290310.4:c.25C= MANE Select | ENSP00000290310.2:p.Gln9= |
| NM_172201.1:c.25C= , LRG_291t1:c.25C= | NP_751951.1:p.Gln9= |
| ENST00000290310.3:c.25C= | ENSP00000290310.2:p.Gln9= |
| XR_001755012.2:n.939G= | |
| XR_001755013.2:n.818G= | |
| XR_937683.1:n.818G= | |
| XR_937683.2:n.818G= | |
| XR_937684.1:n.818G= |