Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18194973A>C , CM000679.2:g.18194973A>C | GRCh38 |
| NC_000017.10:g.18098287A>C , CM000679.1:g.18098287A>C | GRCh37 |
| NC_000017.9:g.18039012A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017758.4:c.789A>C MANE Select | NP_060228.3:p.Glu263Asp |
| ENST00000399138.5:c.789A>C MANE Select | ENSP00000382091.4:p.Glu263Asp |
| NM_017758.3:c.789A>C | NP_060228.3:p.Glu263Asp |
| ENST00000399138.4:c.789A>C | ENSP00000382091.4:p.Glu263Asp |
| ENST00000541285.1:c.-235A>C | ENSP00000468116.1:n.-235A>C |