Linked Data
ClinVar Variation Id:
1183850
ClinVar RCV Id:
RCV001541779
dbSNP Id:
rs7710
ExAC:
19:10226256 A / G
gnomAD v2:
19-10226256-A-G
gnomAD v3:
19-10115580-A-G
gnomAD v4:
19-10115580-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115580A>G , CM000681.2:g.10115580A>G | GRCh38 |
| NC_000019.9:g.10226256A>G , CM000681.1:g.10226256A>G | GRCh37 |
| NC_000019.8:g.10087256A>G | NCBI36 |
| NG_047007.1:g.9060A>G | |
| NG_051197.1:g.9345T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.846T>C MANE Select | ENSP00000253108.3:p.Phe282= | |
| ENST00000253108.8:c.846T>C | ENSP00000253108.3:p.Phe282= | |
| ENST00000589454.5:c.822T>C | ENSP00000466860.1:p.Phe274= | |
| ENST00000590158.1:n.865T>C | ||
| ENST00000593054.5:c.240T>C | ENSP00000467187.1:p.Phe80= | |
| NM_003755.3:c.846T>C | NP_003746.2:p.Phe282= | |
| NM_003755.4:c.846T>C | NP_003746.2:p.Phe282= | |
| NM_003755.5:c.846T>C MANE Select | NP_003746.2:p.Phe282= |