Linked Data
ClinVar Variation Id:
159794
ClinVar RCV Id:
RCV000147358
RCV000433486
RCV000515248
RCV001815201
RCV001086537
RCV002312656
RCV003224167
RCV004532660
dbSNP Id:
rs34472250
ExAC:
19:50368466 C / T
gnomAD v2:
19-50368466-C-T
gnomAD v3:
19-49865209-C-T
gnomAD v4:
19-49865209-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49865209C>T , CM000681.2:g.49865209C>T | GRCh38 |
| NC_000019.9:g.50368466C>T , CM000681.1:g.50368466C>T | GRCh37 |
| NC_000019.8:g.55060278C>T | NCBI36 |
| NG_027717.1:g.7357G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.416G>A MANE Select | ENSP00000323511.2:p.Arg139His | |
| ENST00000636214.1:c.232G>A | ENSP00000489983.1:p.Val78Ile | |
| ENST00000322344.7:c.416G>A | ENSP00000323511.2:p.Arg139His | |
| ENST00000593946.5:c.*343G>A | ENSP00000468896.1:n.*343G>A | |
| ENST00000594661.5:n.830G>A | ||
| ENST00000596014.5:c.416G>A | ENSP00000472300.1:p.Arg139His | |
| ENST00000596726.3:c.416G>A | ENSP00000470887.2:p.Arg139His | |
| ENST00000599543.3:c.416G>A | ENSP00000469848.2:p.Arg139His | |
| ENST00000600573.5:c.416G>A | ENSP00000469826.1:p.Arg139His | |
| ENST00000600910.5:c.416G>A | ENSP00000473137.1:p.Arg139His | |
| ENST00000625299.1:n.334G>A | ||
| ENST00000627232.2:c.416G>A | ENSP00000486037.1:p.Arg139His | |
| ENST00000627317.1:c.175G>A | ||
| ENST00000629179.1:n.183-806G>A | ||
| ENST00000631020.2:c.416G>A | ENSP00000486707.1:p.Arg139His | |
| NM_007254.3:c.416G>A | NP_009185.2:p.Arg139His | |
| NM_007254.4:c.416G>A MANE Select | NP_009185.2:p.Arg139His |