Linked Data
ClinVar Variation Id:
4017
ClinVar RCV Id:
RCV000004232
dbSNP Id:
rs28941768
gnomAD v2:
21-47571859-G-A
gnomAD v3:
21-46151945-G-A
gnomAD v4:
21-46151945-G-A
PubMed:
PMID:12815595
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46151945G>A , CM000683.2:g.46151945G>A | GRCh38 |
| NC_000021.8:g.47571859G>A , CM000683.1:g.47571859G>A | GRCh37 |
| NC_000021.7:g.46396287G>A | NCBI36 |
| NG_016191.1:g.8623C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397746.8:c.403C>T (FTCD) MANE Select | ENSP00000380854.3:p.Arg135Cys | |
| ENST00000291670.9:c.403C>T (FTCD) | ENSP00000291670.5:p.Arg135Cys | |
| ENST00000397743.1:c.403C>T (FTCD) | ENSP00000380851.1:p.Arg135Cys | |
| ENST00000397746.7:c.403C>T (FTCD) | ENSP00000380854.3:p.Arg135Cys | |
| ENST00000397748.5:c.403C>T (FTCD) | ENSP00000380856.1:p.Arg135Cys | |
| ENST00000498355.6:n.472C>T (FTCD) | ||
| NM_006657.2:c.403C>T (FTCD) | NP_006648.1:p.Arg135Cys | |
| NM_206965.1:c.403C>T (FTCD) | NP_996848.1:p.Arg135Cys | |
| XM_006723961.2:c.523C>T (FTCD) | XP_006724024.2:p.Arg175Cys | |
| XM_006723962.2:c.523C>T (FTCD) | XP_006724025.2:p.Arg175Cys | |
| XM_011529434.1:c.523C>T (FTCD) | XP_011527736.1:p.Arg175Cys | |
| XM_011529435.1:c.523C>T (FTCD) | XP_011527737.1:p.Arg175Cys | |
| XM_011529436.1:c.523C>T (FTCD) | XP_011527738.1:p.Arg175Cys | |
| XM_011529437.1:c.523C>T (FTCD) | XP_011527739.1:p.Arg175Cys | |
| XM_011529438.1:c.523C>T (FTCD) | XP_011527740.1:p.Arg175Cys | |
| XM_011529439.1:c.10C>T (FTCD) | XP_011527741.1:p.Arg4Cys | |
| XM_011529440.1:c.523C>T (FTCD) | XP_011527742.1:p.Arg175Cys | |
| XR_937433.1:n.706C>T (FTCD) | ||
| NM_001320412.1:c.403C>T (FTCD) | NP_001307341.1:p.Arg135Cys | |
| NM_001350598.1:c.225+186G>A (FTCD-AS1) | NP_001337527.1:n.225+186G>A | |
| XM_006723961.4:c.523C>T (FTCD) | XP_006724024.2:p.Arg175Cys | |
| XM_006723962.4:c.523C>T (FTCD) | XP_006724025.2:p.Arg175Cys | |
| XM_011529434.3:c.523C>T (FTCD) | XP_011527736.1:p.Arg175Cys | |
| XM_011529435.3:c.523C>T (FTCD) | XP_011527737.1:p.Arg175Cys | |
| XM_011529436.3:c.523C>T (FTCD) | XP_011527738.1:p.Arg175Cys | |
| XM_011529437.3:c.523C>T (FTCD) | XP_011527739.1:p.Arg175Cys | |
| XM_011529439.2:c.10C>T (FTCD) | XP_011527741.1:p.Arg4Cys | |
| XM_011529440.3:c.523C>T (FTCD) | XP_011527742.1:p.Arg175Cys | |
| XR_937433.3:n.740C>T (FTCD) | ||
| NM_206965.2:c.403C>T (FTCD) MANE Select | NP_996848.1:p.Arg135Cys | |
| NM_001320412.2:c.403C>T (FTCD) | NP_001307341.1:p.Arg135Cys | |
| NM_006657.3:c.403C>T (FTCD) | NP_006648.1:p.Arg135Cys | |
| NR_170989.1:n.146+186G>A (FTCD-AS1) |