Linked Data
ClinVar Variation Id:
2191559
dbSNP Id:
rs751921163
ExAC:
19:46270298 C / T
gnomAD v2:
19-46270298-C-T
gnomAD v3:
19-45767040-C-T
gnomAD v4:
19-45767040-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45767040C>T , CM000681.2:g.45767040C>T | GRCh38 |
| NC_000019.9:g.46270298C>T , CM000681.1:g.46270298C>T | GRCh37 |
| NC_000019.8:g.50962138C>T | NCBI36 |
| NG_012745.1:g.7200G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.919G>A MANE Select | ENSP00000316842.4:p.Ala307Thr | |
| ENST00000317578.6:c.919G>A | ENSP00000316842.4:p.Ala307Thr | |
| ENST00000560160.1:c.587-929G>A | ||
| ENST00000560168.1:c.*107G>A | ENSP00000453189.2:n.*107G>A | |
| ENST00000622857.1:c.16-1078G>A | ENSP00000481365.1:n.16-1078G>A | |
| NM_175875.4:c.919G>A | NP_787071.2:p.Ala307Thr | |
| NM_175875.5:c.919G>A MANE Select | NP_787071.3:p.Ala307Thr |