Linked Data
ClinVar Variation Id:
777512
ClinVar RCV Id:
RCV000957996
dbSNP Id:
rs146519620
ExAC:
19:58427751 G / C
gnomAD v2:
19-58427751-G-C
gnomAD v3:
19-57916383-G-C
gnomAD v4:
19-57916383-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.57916383G>C , CM000681.2:g.57916383G>C | GRCh38 |
| NC_000019.9:g.58427751G>C , CM000681.1:g.58427751G>C | GRCh37 |
| NC_000019.8:g.63119563G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312026.6:c.29C>G MANE Select | ENSP00000311319.4:p.Thr10Ser | |
| ENST00000312026.5:c.29C>G | ENSP00000311319.4:p.Thr10Ser | |
| ENST00000595559.1:c.29C>G | ENSP00000472272.1:p.Thr10Ser | |
| ENST00000597515.5:c.-199C>G | ENSP00000471689.1:n.-199C>G | |
| ENST00000598526.5:c.-202C>G | ENSP00000471325.1:n.-202C>G | |
| ENST00000598629.5:c.-292C>G | ENSP00000471471.1:n.-292C>G | |
| ENST00000599251.1:c.-295C>G | ENSP00000469176.1:n.-295C>G | |
| ENST00000602124.1:c.-199C>G | ENSP00000470782.1:n.-199C>G | |
| NM_001297734.1:c.29C>G | NP_001284663.1:p.Thr10Ser | |
| NM_152475.2:c.29C>G | NP_689688.2:p.Thr10Ser | |
| NM_152475.3:c.29C>G MANE Select | NP_689688.2:p.Thr10Ser | |
| NM_001297734.2:c.29C>G | NP_001284663.1:p.Thr10Ser |