Linked Data
ClinVar Variation Id:
1316913
ClinVar RCV Id:
RCV001757729
dbSNP Id:
rs55877356
gnomAD v2:
10-17271206-G-C
gnomAD v3:
10-17229207-G-C
gnomAD v4:
10-17229207-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17229207G>C , CM000672.2:g.17229207G>C | GRCh38 |
| NC_000010.10:g.17271206G>C , CM000672.1:g.17271206G>C | GRCh37 |
| NC_000010.9:g.17311212G>C | NCBI36 |
| NG_012413.1:g.5949G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544301.7:c.-147-69G>C (VIM) MANE Select | ENSP00000446007.1:n.-147-69G>C | |
| ENST00000478317.5:n.267-69G>C (VIM) | ||
| ENST00000478746.1:n.163-69G>C (VIM) | ||
| ENST00000497849.1:n.160-69G>C (VIM) | ||
| ENST00000544301.5:c.-147-69G>C (VIM) | ENSP00000446007.1:n.-147-69G>C | |
| NM_003380.3:c.-147-69G>C (VIM) | NP_003371.2:n.-147-69G>C | |
| NR_108061.1:n.641+138C>G (VIM-AS1) | ||
| XM_006717500.1:c.-216G>C (VIM) | XP_006717563.1:n.-216G>C | |
| XM_011519649.1:c.-166-50G>C (VIM) | XP_011517951.1:n.-166-50G>C | |
| NM_003380.4:c.-147-69G>C (VIM) | NP_003371.2:n.-147-69G>C | |
| NM_003380.5:c.-147-69G>C (VIM) MANE Select | NP_003371.2:n.-147-69G>C |