Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44309897C>T , CM000673.2:g.44309897C>T | GRCh38 |
| NC_000011.9:g.44331447C>T , CM000673.1:g.44331447C>T | GRCh37 |
| NC_000011.8:g.44288023C>T | NCBI36 |
| NG_015809.1:g.5270G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652299.1:c.166G>A MANE Select | ENSP00000498217.1:p.Gly56Arg | |
| ENST00000329255.3:c.166G>A | ENSP00000332744.3:p.Gly56Arg | |
| NM_021926.3:c.166G>A | NP_068745.2:p.Gly56Arg | |
| XM_011520264.1:c.166G>A | XP_011518566.1:p.Gly56Arg | |
| XM_011520265.1:c.-147-210G>A | XP_011518567.1:n.-147-210G>A | |
| NM_021926.4:c.166G>A MANE Select | NP_068745.2:p.Gly56Arg |