Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43946416C= , CM000684.2:g.43946416C= | GRCh38 |
| NC_000022.10:g.44342296C= , CM000684.1:g.44342296C= | GRCh37 |
| NC_000022.9:g.42673629C= | NCBI36 |
| NG_008631.1:g.27678C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.*34C= MANE Select | ENSP00000216180.3:n.*34C= | |
| ENST00000216180.7:c.*34C= | ENSP00000216180.3:n.*34C= | |
| ENST00000406117.6:c.*849+1621C= | ENSP00000384668.2:n.*849+1621C= | |
| ENST00000423180.2:c.*34C= | ENSP00000397987.2:n.*34C= | |
| NM_025225.2:c.*34C= | NP_079501.2:n.*34C= | |
| NM_025225.3:c.*34C= MANE Select | NP_079501.2:n.*34C= |