Linked Data
ClinVar Variation Id:
39781
ClinVar RCV Id:
RCV000033003
dbSNP Id:
rs398122913
gnomAD v4:
12-53939296-C-A
PubMed:
PMID:23063621
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53939296C>A , CM000674.2:g.53939296C>A | GRCh38 |
| NC_000012.11:g.54333080C>A , CM000674.1:g.54333080C>A | GRCh37 |
| NC_000012.10:g.52619347C>A | NCBI36 |
| NG_033026.1:g.5505C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243056.5:c.390C>A (HOXC13) MANE Select | ENSP00000243056.3:p.Tyr130Ter | |
| ENST00000243056.4:c.390C>A (HOXC13) | ENSP00000243056.3:p.Tyr130Ter | |
| NM_017410.2:c.390C>A (HOXC13) | NP_059106.2:p.Tyr130Ter | |
| NR_047507.1:n.173+175G>T (HOXC13-AS) | ||
| NM_017410.3:c.390C>A (HOXC13) MANE Select | NP_059106.2:p.Tyr130Ter |