Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2326209G= , CM000678.2:g.2326209G= | GRCh38 |
| NC_000016.9:g.2376210G= , CM000678.1:g.2376210G= | GRCh37 |
| NC_000016.8:g.2316211G= | NCBI36 |
| NG_011790.1:g.19538C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301732.10:c.120C= MANE Select | ENSP00000301732.5:p.Ile40= | |
| ENST00000301732.9:c.120C= | ENSP00000301732.5:p.Ile40= | |
| ENST00000382381.7:c.120C= | ENSP00000371818.3:p.Ile40= | |
| ENST00000563623.5:n.683C= | ||
| ENST00000567910.1:c.120C= | ENSP00000454397.1:p.Ile40= | |
| NM_001089.2:c.120C= | NP_001080.2:p.Ile40= | |
| NM_001089.3:c.120C= MANE Select | NP_001080.2:p.Ile40= |