Linked Data
ClinVar Variation Id:
541104
ClinVar RCV Id:
RCV000651306
dbSNP Id:
rs773938980
ExAC:
10:17271588 C / A
gnomAD v2:
10-17271588-C-A
gnomAD v3:
10-17229589-C-A
gnomAD v4:
10-17229589-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17229589C>A , CM000672.2:g.17229589C>A | GRCh38 |
| NC_000010.10:g.17271588C>A , CM000672.1:g.17271588C>A | GRCh37 |
| NC_000010.9:g.17311594C>A | NCBI36 |
| NG_012413.1:g.6331C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544301.7:c.167C>A (VIM) MANE Select | ENSP00000446007.1:p.Ser56Tyr | |
| ENST00000224237.9:c.167C>A (VIM) | ENSP00000224237.5:p.Ser56Tyr | |
| ENST00000478317.5:n.580C>A (VIM) | ||
| ENST00000478746.1:n.476C>A (VIM) | ||
| ENST00000485947.1:n.299C>A (VIM) | ||
| ENST00000487938.5:c.167C>A (VIM) | ENSP00000435613.1:p.Ser56Tyr | |
| ENST00000497849.1:n.473C>A (VIM) | ||
| ENST00000544301.5:c.167C>A (VIM) | ENSP00000446007.1:p.Ser56Tyr | |
| NM_003380.3:c.167C>A (VIM) | NP_003371.2:p.Ser56Tyr | |
| NR_108061.1:n.397G>T (VIM-AS1) | ||
| XM_006717500.1:c.167C>A (VIM) | XP_006717563.1:p.Ser56Tyr | |
| XM_011519649.1:c.167C>A (VIM) | XP_011517951.1:p.Ser56Tyr | |
| NM_003380.4:c.167C>A (VIM) | NP_003371.2:p.Ser56Tyr | |
| XM_006717500.2:c.167C>A (VIM) | XP_006717563.1:p.Ser56Tyr | |
| NM_003380.5:c.167C>A (VIM) MANE Select | NP_003371.2:p.Ser56Tyr |