Linked Data
ClinVar Variation Id:
536736
dbSNP Id:
rs142773987
ExAC:
17:4904672 A / G
gnomAD v2:
17-4904672-A-G
gnomAD v3:
17-5001377-A-G
gnomAD v4:
17-5001377-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5001377A>G , CM000679.2:g.5001377A>G | GRCh38 |
| NC_000017.10:g.4904672A>G , CM000679.1:g.4904672A>G | GRCh37 |
| NC_000017.9:g.4845396A>G | NCBI36 |
| NG_034137.1:g.8430A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320785.10:c.339A>G (KIF1C) MANE Select | ENSP00000320821.5:p.Pro113= | |
| ENST00000320785.9:c.339A>G (KIF1C) | ENSP00000320821.5:p.Pro113= | |
| ENST00000574165.1:c.339A>G (KIF1C) | ENSP00000458697.1:p.Pro113= | |
| NM_006612.5:c.339A>G (KIF1C) | NP_006603.2:p.Pro113= | |
| XM_005256424.1:c.339A>G (KIF1C) | XP_005256481.1:p.Pro113= | |
| XM_005256424.2:c.339A>G (KIF1C) | XP_005256481.1:p.Pro113= | |
| XM_024450745.1:c.-39+4705T>C (INCA1) | XP_024306513.1:n.-39+4705T>C | |
| NM_006612.6:c.339A>G (KIF1C) MANE Select | NP_006603.2:p.Pro113= |