Linked Data
ClinVar Variation Id:
2228996
ClinVar RCV Id:
RCV004096948
dbSNP Id:
rs556993752
ExAC:
12:54367599 C / G
gnomAD v2:
12-54367599-C-G
gnomAD v3:
12-53973815-C-G
gnomAD v4:
12-53973815-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53973815C>G , CM000674.2:g.53973815C>G | GRCh38 |
| NC_000012.11:g.54367599C>G , CM000674.1:g.54367599C>G | GRCh37 |
| NC_000012.10:g.52653866C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243082.4:c.574C>G (HOXC11) | ENSP00000243082.4:p.Arg192Gly | |
| ENST00000546378.1:c.574C>G (HOXC11) MANE Select | ENSP00000446680.1:p.Arg192Gly | |
| NM_014212.3:c.574C>G (HOXC11) | NP_055027.1:p.Arg192Gly | |
| NR_047517.1:n.59+1083G>C (HOTAIR) | ||
| NM_014212.4:c.574C>G (HOXC11) MANE Select | NP_055027.1:p.Arg192Gly |