Linked Data
ClinVar Variation Id:
789115
ClinVar RCV Id:
RCV000971673
dbSNP Id:
rs34112069
ExAC:
19:17395038 G / A
gnomAD v2:
19-17395038-G-A
gnomAD v3:
19-17284229-G-A
gnomAD v4:
19-17284229-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17284229G>A , CM000681.2:g.17284229G>A | GRCh38 |
| NC_000019.9:g.17395038G>A , CM000681.1:g.17395038G>A | GRCh37 |
| NC_000019.8:g.17256038G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404085.7:c.1339G>A MANE Select | ENSP00000384008.3:p.Val447Met | |
| ENST00000404261.9:c.1120+345G>A | ENSP00000384753.6:n.1120+345G>A | |
| ENST00000594072.6:c.1261G>A | ENSP00000468845.4:p.Val421Met | |
| ENST00000651416.1:n.1478G>A | ||
| ENST00000652132.1:c.1228G>A | ENSP00000498416.1:p.Val410Met | |
| ENST00000394458.7:c.1501G>A | ENSP00000377971.4:p.Val501Met | |
| ENST00000404085.5:c.*1160G>A | ENSP00000384008.2:n.*1160G>A | |
| ENST00000404261.8:c.1282+345G>A | ENSP00000384753.5:n.1282+345G>A | |
| ENST00000594072.5:c.1423G>A | ENSP00000468845.3:p.Val475Met | |
| ENST00000596626.1:n.1452G>A | ||
| ENST00000598347.2:c.1263G>A | ||
| NM_001278443.1:c.1390G>A | NP_001265372.1:p.Val464Met | |
| NM_001278444.1:c.1423G>A | NP_001265373.1:p.Val475Met | |
| NM_001278445.1:c.1327G>A | NP_001265374.1:p.Val443Met | |
| NM_152363.5:c.1501G>A | NP_689576.5:p.Val501Met | |
| NR_103530.1:n.1396+345G>A | ||
| NM_001278443.2:c.1228G>A | NP_001265372.2:p.Val410Met | |
| NM_001278444.2:c.1261G>A | NP_001265373.2:p.Val421Met | |
| NM_001278445.2:c.1219G>A | NP_001265374.2:p.Val407Met | |
| NM_152363.6:c.1339G>A MANE Select | NP_689576.6:p.Val447Met | |
| NR_103530.2:n.1140+345G>A |