Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535593G>T , CM000663.2:g.1535593G>T | GRCh38 |
| NC_000001.10:g.1470973G>T , CM000663.1:g.1470973G>T | GRCh37 |
| NC_000001.9:g.1460836G>T | NCBI36 |
| NG_041807.1:g.9768C>A | |
| NG_053035.1:g.28451G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.369C>A MANE Select | ENSP00000368007.4:p.Arg123= | |
| ENST00000378733.8:c.369C>A | ENSP00000368007.4:p.Arg123= | |
| ENST00000425828.1:c.369C>A | ENSP00000400311.1:p.Arg123= | |
| NM_001114748.1:c.369C>A | NP_001108220.1:p.Arg123= | |
| NM_001114748.2:c.369C>A MANE Select | NP_001108220.1:p.Arg123= |