Linked Data
ClinVar Variation Id:
754291
ClinVar RCV Id:
RCV000931606
dbSNP Id:
rs749747498
ExAC:
17:4905753 A / T
gnomAD v2:
17-4905753-A-T
gnomAD v3:
17-5002458-A-T
gnomAD v4:
17-5002458-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5002458A>T , CM000679.2:g.5002458A>T | GRCh38 |
| NC_000017.10:g.4905753A>T , CM000679.1:g.4905753A>T | GRCh37 |
| NC_000017.9:g.4846477A>T | NCBI36 |
| NG_034137.1:g.9511A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320785.10:c.430-6A>T (KIF1C) MANE Select | ENSP00000320821.5:n.430-6A>T | |
| ENST00000320785.9:c.430-6A>T (KIF1C) | ENSP00000320821.5:n.430-6A>T | |
| NM_006612.5:c.430-6A>T (KIF1C) | NP_006603.2:n.430-6A>T | |
| XM_005256424.1:c.430-6A>T (KIF1C) | XP_005256481.1:n.430-6A>T | |
| XM_005256424.2:c.430-6A>T (KIF1C) | XP_005256481.1:n.430-6A>T | |
| XM_024450745.1:c.-39+3624T>A (INCA1) | XP_024306513.1:n.-39+3624T>A | |
| NM_006612.6:c.430-6A>T (KIF1C) MANE Select | NP_006603.2:n.430-6A>T |