Linked Data
dbSNP Id:
rs775188176
ExAC:
11:61732215 C / T
gnomAD v2:
11-61732215-C-T
gnomAD v3:
11-61964743-C-T
gnomAD v4:
11-61964743-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61964743C>T , CM000673.2:g.61964743C>T | GRCh38 |
| NC_000011.9:g.61732215C>T , CM000673.1:g.61732215C>T | GRCh37 |
| NC_000011.8:g.61488791C>T | NCBI36 |
| NG_008346.1:g.7918G>A | |
| NG_009033.1:g.19860C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620041.5:c.536G>A (FTH1) | ENSP00000484477.1:p.Ser179Asn | |
| ENST00000273550.12:c.536G>A (FTH1) MANE Select | ENSP00000273550.7:p.Ser179Asn | |
| ENST00000273550.11:c.536G>A (FTH1) | ENSP00000273550.7:p.Ser179Asn | |
| ENST00000449131.6:c.*1594C>T (BEST1) | ENSP00000399709.2:n.*1594C>T | |
| ENST00000526640.5:c.446G>A (FTH1) | ENSP00000433321.1:p.Ser149Asn | |
| ENST00000529191.5:c.114+2569G>A (FTH1) | ENSP00000431659.1:n.114+2569G>A | |
| ENST00000529631.5:c.114+2569G>A (FTH1) | ENSP00000431575.1:n.114+2569G>A | |
| ENST00000530019.5:c.261+626G>A (FTH1) | ENSP00000433470.1:n.261+626G>A | |
| ENST00000532601.1:c.326G>A (FTH1) | ENSP00000435111.1:p.Ser109Asn | |
| ENST00000532829.5:c.*241G>A (FTH1) | ENSP00000432223.1:n.*241G>A | |
| ENST00000534180.1:c.*445G>A (FTH1) | ENSP00000434403.1:n.*445G>A | |
| ENST00000620041.4:c.536G>A (FTH1) | ENSP00000484477.1:p.Ser179Asn | |
| NM_002032.2:c.536G>A (FTH1) | NP_002023.2:p.Ser179Asn | |
| NM_002032.3:c.536G>A (FTH1) MANE Select | NP_002023.2:p.Ser179Asn | |
| NM_001139443.2:c.*1594C>T (BEST1) | NP_001132915.1:n.*1594C>T | |
| NM_001363591.2:c.*1594C>T (BEST1) | NP_001350520.1:n.*1594C>T | |
| NM_001363593.2:c.*1594C>T (BEST1) | NP_001350522.1:n.*1594C>T |