Linked Data
ClinVar Variation Id:
703473
dbSNP Id:
rs531385322
ExAC:
10:17271520 G / T
gnomAD v2:
10-17271520-G-T
gnomAD v3:
10-17229521-G-T
gnomAD v4:
10-17229521-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17229521G>T , CM000672.2:g.17229521G>T | GRCh38 |
| NC_000010.10:g.17271520G>T , CM000672.1:g.17271520G>T | GRCh37 |
| NC_000010.9:g.17311526G>T | NCBI36 |
| NG_012413.1:g.6263G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544301.7:c.99G>T (VIM) MANE Select | ENSP00000446007.1:p.Thr33= | |
| ENST00000224237.9:c.99G>T (VIM) | ENSP00000224237.5:p.Thr33= | |
| ENST00000478317.5:n.512G>T (VIM) | ||
| ENST00000478746.1:n.408G>T (VIM) | ||
| ENST00000485947.1:n.231G>T (VIM) | ||
| ENST00000487938.5:c.99G>T (VIM) | ENSP00000435613.1:p.Thr33= | |
| ENST00000497849.1:n.405G>T (VIM) | ||
| ENST00000544301.5:c.99G>T (VIM) | ENSP00000446007.1:p.Thr33= | |
| NM_003380.3:c.99G>T (VIM) | NP_003371.2:p.Thr33= | |
| NR_108061.1:n.465C>A (VIM-AS1) | ||
| XM_006717500.1:c.99G>T (VIM) | XP_006717563.1:p.Thr33= | |
| XM_011519649.1:c.99G>T (VIM) | XP_011517951.1:p.Thr33= | |
| NM_003380.4:c.99G>T (VIM) | NP_003371.2:p.Thr33= | |
| XM_006717500.2:c.99G>T (VIM) | XP_006717563.1:p.Thr33= | |
| NM_003380.5:c.99G>T (VIM) MANE Select | NP_003371.2:p.Thr33= |