Linked Data
ClinVar Variation Id:
259691
dbSNP Id:
rs138318843
ExAC:
16:86601049 C / T
gnomAD v2:
16-86601049-C-T
gnomAD v3:
16-86567443-C-T
gnomAD v4:
16-86567443-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86567443C>T , CM000678.2:g.86567443C>T | GRCh38 |
| NC_000016.9:g.86601049C>T , CM000678.1:g.86601049C>T | GRCh37 |
| NC_000016.8:g.85158550C>T | NCBI36 |
| NG_012025.1:g.5193C>T | |
| NG_012025.2:g.5615C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649859.1:c.108C>T (FOXC2) MANE Select | ENSP00000497759.1:p.Ser36= | |
| ENST00000320354.5:c.108C>T (FOXC2) | ENSP00000326371.4:p.Ser36= | |
| NM_005251.2:c.108C>T (FOXC2) | NP_005242.1:p.Ser36= | |
| NR_125795.1:n.145+174G>A (FOXC2-AS1) | ||
| NM_005251.3:c.108C>T (FOXC2) MANE Select | NP_005242.1:p.Ser36= |