Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16948969G= , CM000679.2:g.16948969G= | GRCh38 |
| NC_000017.10:g.16852283G= , CM000679.1:g.16852283G= | GRCh37 |
| NC_000017.9:g.16793008G= | NCBI36 |
| NG_007281.1:g.28120C= , LRG_120:g.28120C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.214C= MANE Select | ENSP00000261652.2:p.Arg72= | |
| ENST00000261652.6:c.214C= | ENSP00000261652.2:p.Arg72= | |
| ENST00000579315.5:c.214C= | ENSP00000464069.1:p.Arg72= | |
| ENST00000581616.2:n.217C= | ||
| ENST00000582931.5:n.118C= | ||
| ENST00000583789.1:c.76C= | ENSP00000462952.1:p.Arg26= | |
| ENST00000584950.5:c.76C= | ENSP00000463582.1:p.Arg26= | |
| NM_012452.2:c.214C= , LRG_120t1:c.214C= | NP_036584.1:p.Arg72= | |
| NM_012452.3:c.214C= MANE Select | NP_036584.1:p.Arg72= |