Linked Data
dbSNP Id:
rs755752688
ExAC:
12:54367597 C / T
gnomAD v2:
12-54367597-C-T
gnomAD v3:
12-53973813-C-T
gnomAD v4:
12-53973813-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53973813C>T , CM000674.2:g.53973813C>T | GRCh38 |
| NC_000012.11:g.54367597C>T , CM000674.1:g.54367597C>T | GRCh37 |
| NC_000012.10:g.52653864C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243082.4:c.572C>T (HOXC11) | ENSP00000243082.4:p.Ser191Phe | |
| ENST00000546378.1:c.572C>T (HOXC11) MANE Select | ENSP00000446680.1:p.Ser191Phe | |
| NM_014212.3:c.572C>T (HOXC11) | NP_055027.1:p.Ser191Phe | |
| NR_047517.1:n.59+1085G>A (HOTAIR) | ||
| NM_014212.4:c.572C>T (HOXC11) MANE Select | NP_055027.1:p.Ser191Phe |