Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45767064C>A , CM000681.2:g.45767064C>A | GRCh38 |
| NC_000019.9:g.46270322C>A , CM000681.1:g.46270322C>A | GRCh37 |
| NC_000019.8:g.50962162C>A | NCBI36 |
| NG_012745.1:g.7176G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.895G>T MANE Select | ENSP00000316842.4:p.Ala299Ser | |
| ENST00000317578.6:c.895G>T | ENSP00000316842.4:p.Ala299Ser | |
| ENST00000560160.1:c.587-953G>T | ||
| ENST00000560168.1:c.*83G>T | ENSP00000453189.2:n.*83G>T | |
| ENST00000622857.1:c.16-1102G>T | ENSP00000481365.1:n.16-1102G>T | |
| NM_175875.4:c.895G>T | NP_787071.2:p.Ala299Ser | |
| NM_175875.5:c.895G>T MANE Select | NP_787071.3:p.Ala299Ser |