Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34856808G>A , CM000668.2:g.34856808G>A | GRCh38 |
| NC_000006.11:g.34824585G>A , CM000668.1:g.34824585G>A | GRCh37 |
| NC_000006.10:g.34932563G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017754.4:c.1310G>A MANE Select | NP_060224.3:p.Arg437Gln |
| ENST00000192788.6:c.1310G>A MANE Select | ENSP00000192788.5:p.Arg437Gln |
| NM_017754.3:c.1310G>A | NP_060224.3:p.Arg437Gln |
| ENST00000192788.5:c.1310G>A | ENSP00000192788.5:p.Arg437Gln |
| ENST00000452449.6:c.1310G>A | ENSP00000400628.2:p.Arg437Gln |
| XM_005249199.3:c.152G>A | XP_005249256.1:p.Arg51Gln |
| XM_006715126.2:c.1310G>A | XP_006715189.1:p.Arg437Gln |
| XM_011514714.1:c.1223G>A | XP_011513016.1:p.Arg408Gln |
| XM_011514715.1:c.314G>A | XP_011513017.1:p.Arg105Gln |