Linked Data
ClinVar Variation Id:
468858
ClinVar RCV Id:
RCV000540072
dbSNP Id:
rs185479618
ExAC:
17:4905828 C / T
gnomAD v2:
17-4905828-C-T
gnomAD v3:
17-5002533-C-T
gnomAD v4:
17-5002533-C-T
COSMIC:
COSM4695980
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5002533C>T , CM000679.2:g.5002533C>T | GRCh38 |
| NC_000017.10:g.4905828C>T , CM000679.1:g.4905828C>T | GRCh37 |
| NC_000017.9:g.4846552C>T | NCBI36 |
| NG_034137.1:g.9586C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320785.10:c.499C>T (KIF1C) MANE Select | ENSP00000320821.5:p.Arg167Trp | |
| ENST00000320785.9:c.499C>T (KIF1C) | ENSP00000320821.5:p.Arg167Trp | |
| NM_006612.5:c.499C>T (KIF1C) | NP_006603.2:p.Arg167Trp | |
| XM_005256424.1:c.499C>T (KIF1C) | XP_005256481.1:p.Arg167Trp | |
| XM_005256424.2:c.499C>T (KIF1C) | XP_005256481.1:p.Arg167Trp | |
| XM_024450745.1:c.-39+3549G>A (INCA1) | XP_024306513.1:n.-39+3549G>A | |
| NM_006612.6:c.499C>T (KIF1C) MANE Select | NP_006603.2:p.Arg167Trp |