Linked Data
ClinVar Variation Id:
775557
ClinVar RCV Id:
RCV000955723
dbSNP Id:
rs114453593
ExAC:
1:63789368 C / T
gnomAD v2:
1-63789368-C-T
gnomAD v3:
1-63323697-C-T
gnomAD v4:
1-63323697-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63323697C>T , CM000663.2:g.63323697C>T | GRCh38 |
| NC_000001.10:g.63789368C>T , CM000663.1:g.63789368C>T | GRCh37 |
| NC_000001.9:g.63561956C>T | NCBI36 |
| NG_012220.1:g.5639C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371116.4:c.639C>T (FOXD3) MANE Select | ENSP00000360157.2:p.Asn213= | |
| ENST00000371116.3:c.639C>T (FOXD3) | ENSP00000360157.2:p.Asn213= | |
| NM_012183.2:c.639C>T (FOXD3) | NP_036315.1:p.Asn213= | |
| NR_121637.1:n.87+658G>A (FOXD3-AS1) | ||
| NM_012183.3:c.639C>T (FOXD3) MANE Select | NP_036315.1:p.Asn213= |