Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55039507C= , CM000663.2:g.55039507C= | GRCh38 |
| NC_000001.10:g.55505180C= , CM000663.1:g.55505180C= | GRCh37 |
| NC_000001.9:g.55277768C= | NCBI36 |
| NG_009061.1:g.4961C= , LRG_275:g.4961C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174936.3:c.-331C= , LRG_275t1:c.-331C= | NP_777596.2:n.-331C= |
| ENST00000673726.1:c.-331C= | ENSP00000501004.1:n.-331C= |
| ENST00000673913.2:c.-331C= | ENSP00000501161.2:n.-331C= |
| ENST00000710286.1:c.27C= | ENSP00000518176.1:p.Arg9= |