Linked Data
ClinVar Variation Id:
3106714
ClinVar RCV Id:
RCV004402086
dbSNP Id:
rs750168236
ExAC:
12:54394397 T / G
gnomAD v2:
12-54394397-T-G
gnomAD v3:
12-54000613-T-G
gnomAD v4:
12-54000613-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.54000613T>G , CM000674.2:g.54000613T>G | GRCh38 |
| NC_000012.11:g.54394397T>G , CM000674.1:g.54394397T>G | GRCh37 |
| NC_000012.10:g.52680664T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303450.5:c.425T>G (HOXC9) MANE Select | ENSP00000302836.4:p.Met142Arg | |
| ENST00000303450.4:c.425T>G (HOXC9) | ENSP00000302836.4:p.Met142Arg | |
| ENST00000504315.1:c.-193+9799T>G (HOXC6) | ENSP00000424124.1:n.-193+9799T>G | |
| ENST00000504557.1:n.123-1817T>G (HOXC9) | ||
| ENST00000508190.1:c.425T>G (HOXC9) | ENSP00000423861.1:p.Met142Arg | |
| ENST00000509328.1:c.-73+5597T>G (HOXC6) | ENSP00000423898.1:n.-73+5597T>G | |
| ENST00000513209.1:c.166+14603T>G | ENSP00000476742.1:n.166+14603T>G | |
| NM_006897.1:c.425T>G (HOXC9) | NP_008828.1:p.Met142Arg | |
| NM_006897.2:c.425T>G (HOXC9) | NP_008828.1:p.Met142Arg | |
| NM_006897.3:c.425T>G (HOXC9) MANE Select | NP_008828.1:p.Met142Arg |