Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89750763C>A , CM000677.2:g.89750763C>A | GRCh38 |
| NC_000015.9:g.90293994C>A , CM000677.1:g.90293994C>A | GRCh37 |
| NC_000015.8:g.88094998C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300057.5:c.469G>T MANE Select | ENSP00000300057.4:p.Ala157Ser | |
| ENST00000300057.4:c.469G>T | ENSP00000300057.4:p.Ala157Ser | |
| ENST00000559894.1:n.114+261G>T | ||
| NM_018670.3:c.469G>T | NP_061140.1:p.Ala157Ser | |
| XR_001751350.1:n.469G>T | ||
| XR_001751351.1:n.469G>T | ||
| XR_001751352.1:n.469G>T | ||
| XR_001751353.1:n.469G>T | ||
| XR_001751354.1:n.469G>T | ||
| NM_018670.4:c.469G>T MANE Select | NP_061140.1:p.Ala157Ser |