Linked Data
ClinVar Variation Id:
2553763
ClinVar RCV Id:
RCV004324558
dbSNP Id:
rs777643587
gnomAD v2:
12-54396375-C-T
gnomAD v4:
12-54002591-C-T
COSMIC:
COSM1362752
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.54002591C>T , CM000674.2:g.54002591C>T | GRCh38 |
| NC_000012.11:g.54396375C>T , CM000674.1:g.54396375C>T | GRCh37 |
| NC_000012.10:g.52682642C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303450.5:c.700C>T (HOXC9) MANE Select | ENSP00000302836.4:p.Arg234Trp | |
| ENST00000303450.4:c.700C>T (HOXC9) | ENSP00000302836.4:p.Arg234Trp | |
| ENST00000504315.1:c.-193+11777C>T (HOXC6) | ENSP00000424124.1:n.-193+11777C>T | |
| ENST00000504557.1:n.284C>T (HOXC9) | ||
| ENST00000508190.1:c.700C>T (HOXC9) | ENSP00000423861.1:p.Arg234Trp | |
| ENST00000509328.1:c.-73+7575C>T (HOXC6) | ENSP00000423898.1:n.-73+7575C>T | |
| ENST00000513209.1:c.166+16581C>T | ENSP00000476742.1:n.166+16581C>T | |
| NM_006897.1:c.700C>T (HOXC9) | NP_008828.1:p.Arg234Trp | |
| NM_006897.2:c.700C>T (HOXC9) | NP_008828.1:p.Arg234Trp | |
| NM_006897.3:c.700C>T (HOXC9) MANE Select | NP_008828.1:p.Arg234Trp |