Linked Data
ClinVar Variation Id:
707401
ClinVar RCV Id:
RCV002539264
dbSNP Id:
rs775719793
ExAC:
17:4905857 G / A
gnomAD v2:
17-4905857-G-A
gnomAD v3:
17-5002562-G-A
gnomAD v4:
17-5002562-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5002562G>A , CM000679.2:g.5002562G>A | GRCh38 |
| NC_000017.10:g.4905857G>A , CM000679.1:g.4905857G>A | GRCh37 |
| NC_000017.9:g.4846581G>A | NCBI36 |
| NG_034137.1:g.9615G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320785.10:c.528G>A (KIF1C) MANE Select | ENSP00000320821.5:p.Pro176= | |
| ENST00000320785.9:c.528G>A (KIF1C) | ENSP00000320821.5:p.Pro176= | |
| NM_006612.5:c.528G>A (KIF1C) | NP_006603.2:p.Pro176= | |
| XM_005256424.1:c.528G>A (KIF1C) | XP_005256481.1:p.Pro176= | |
| XM_005256424.2:c.528G>A (KIF1C) | XP_005256481.1:p.Pro176= | |
| XM_024450745.1:c.-39+3520C>T (INCA1) | XP_024306513.1:n.-39+3520C>T | |
| NM_006612.6:c.528G>A (KIF1C) MANE Select | NP_006603.2:p.Pro176= |