Linked Data
ClinVar Variation Id:
781446
ClinVar RCV Id:
RCV000962678
dbSNP Id:
rs116007369
ExAC:
19:17337066 C / A
gnomAD v2:
19-17337066-C-A
gnomAD v3:
19-17226257-C-A
gnomAD v4:
19-17226257-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17226257C>A , CM000681.2:g.17226257C>A | GRCh38 |
| NC_000019.9:g.17337066C>A , CM000681.1:g.17337066C>A | GRCh37 |
| NC_000019.8:g.17198066C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215061.9:c.10C>A MANE Select | ENSP00000215061.3:p.Pro4Thr | |
| ENST00000215061.8:c.10C>A | ENSP00000215061.3:p.Pro4Thr | |
| ENST00000594283.5:n.15C>A | ||
| ENST00000599588.5:n.32C>A | ||
| ENST00000600232.5:c.5C>A | ||
| ENST00000601529.5:c.10C>A | ENSP00000471201.1:p.Pro4Thr | |
| ENST00000601576.1:n.36C>A | ||
| ENST00000602236.5:n.45C>A | ||
| NM_024578.2:c.10C>A | NP_078854.1:p.Pro4Thr | |
| XM_006722899.2:c.10C>A | XP_006722962.1:p.Pro4Thr | |
| XM_006722899.4:c.10C>A | XP_006722962.1:p.Pro4Thr | |
| NM_024578.3:c.10C>A MANE Select | NP_078854.1:p.Pro4Thr |