Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535464C= , CM000663.2:g.1535464C= | GRCh38 |
| NC_000001.10:g.1470844C= , CM000663.1:g.1470844C= | GRCh37 |
| NC_000001.9:g.1460707C= | NCBI36 |
| NG_041807.1:g.9897G= | |
| NG_053035.1:g.28322C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.417G= MANE Select | ENSP00000368007.4:p.Glu139= | |
| ENST00000378733.8:c.417G= | ENSP00000368007.4:p.Glu139= | |
| ENST00000425828.1:c.417G= | ENSP00000400311.1:p.Glu139= | |
| NM_001114748.1:c.417G= | NP_001108220.1:p.Glu139= | |
| NM_001114748.2:c.417G= MANE Select | NP_001108220.1:p.Glu139= |