Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42142617G= , CM000684.2:g.42142617G= | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001348386.2:c.528C= | NP_001335315.1:p.Gly176= |
| NM_001348386.3:c.528C= | NP_001335315.1:p.Gly176= |
| NR_002570.3:n.640C= | |
| NR_002570.5:n.548C= | |
| NR_002570.6:n.548C= | |
| NR_145674.2:n.548C= | |
| NR_145674.3:n.548C= | |
| ENST00000358097.8:c.529C= | ENSP00000445124.1:p.Pro177= |
| ENST00000433992.2:c.529C= | ENSP00000439604.1:p.Pro177= |
| ENST00000610593.4:n.614C= | |
| ENST00000612115.1:c.528C= | ENSP00000484065.1:p.Gly176= |
| ENST00000614967.4:c.375C= | ENSP00000481168.1:p.Gly125= |
| ENST00000651010.1:n.2482C= |