Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.43030451C>A , CM000666.2:g.43030451C>A | GRCh38 |
| NC_000004.11:g.43032468C>A , CM000666.1:g.43032468C>A | GRCh37 |
| NC_000004.10:g.42727225C>A | NCBI36 |
| NG_027718.1:g.142186C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080476.3:c.784C>A MANE Select | NP_001073945.1:p.Arg262= |
| ENST00000399770.3:c.784C>A MANE Select | ENSP00000382670.2:p.Arg262= |
| NM_001080476.2:c.784C>A | NP_001073945.1:p.Arg262= |
| ENST00000399770.2:c.784C>A | ENSP00000382670.2:p.Arg262= |
| XM_011513691.1:c.421C>A | XP_011511993.1:p.Arg141= |