Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42081801C>T , CM000677.2:g.42081801C>T | GRCh38 |
| NC_000015.9:g.42373999C>T , CM000677.1:g.42373999C>T | GRCh37 |
| NC_000015.8:g.40161291C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290472.4:c.817G>A MANE Select | ENSP00000290472.3:p.Gly273Ser | |
| ENST00000290472.3:c.817G>A | ENSP00000290472.3:p.Gly273Ser | |
| ENST00000560132.1:n.571+478G>A | ||
| NM_178034.3:c.817G>A | NP_828848.3:p.Gly273Ser | |
| XM_011521467.1:c.649G>A | XP_011519769.1:p.Gly217Ser | |
| XR_931798.1:n.917G>A | ||
| XM_011521467.2:c.649G>A | XP_011519769.1:p.Gly217Ser | |
| XR_931798.2:n.917G>A | ||
| NM_178034.4:c.817G>A MANE Select | NP_828848.3:p.Gly273Ser |