Linked Data
dbSNP Id:
rs760927574
ExAC:
11:61732239 A / G
gnomAD v2:
11-61732239-A-G
gnomAD v4:
11-61964767-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61964767A>G , CM000673.2:g.61964767A>G | GRCh38 |
| NC_000011.9:g.61732239A>G , CM000673.1:g.61732239A>G | GRCh37 |
| NC_000011.8:g.61488815A>G | NCBI36 |
| NG_008346.1:g.7894T>C | |
| NG_009033.1:g.19884A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620041.5:c.512T>C (FTH1) | ENSP00000484477.1:p.Phe171Ser | |
| ENST00000273550.12:c.512T>C (FTH1) MANE Select | ENSP00000273550.7:p.Phe171Ser | |
| ENST00000273550.11:c.512T>C (FTH1) | ENSP00000273550.7:p.Phe171Ser | |
| ENST00000449131.6:c.*1618A>G (BEST1) | ENSP00000399709.2:n.*1618A>G | |
| ENST00000526640.5:c.422T>C (FTH1) | ENSP00000433321.1:p.Phe141Ser | |
| ENST00000529191.5:c.114+2545T>C (FTH1) | ENSP00000431659.1:n.114+2545T>C | |
| ENST00000529631.5:c.114+2545T>C (FTH1) | ENSP00000431575.1:n.114+2545T>C | |
| ENST00000530019.5:c.261+602T>C (FTH1) | ENSP00000433470.1:n.261+602T>C | |
| ENST00000532601.1:c.302T>C (FTH1) | ENSP00000435111.1:p.Phe101Ser | |
| ENST00000532829.5:c.*217T>C (FTH1) | ENSP00000432223.1:n.*217T>C | |
| ENST00000534180.1:c.*421T>C (FTH1) | ENSP00000434403.1:n.*421T>C | |
| ENST00000534719.1:n.768T>C (FTH1) | ||
| ENST00000620041.4:c.512T>C (FTH1) | ENSP00000484477.1:p.Phe171Ser | |
| NM_002032.2:c.512T>C (FTH1) | NP_002023.2:p.Phe171Ser | |
| NM_002032.3:c.512T>C (FTH1) MANE Select | NP_002023.2:p.Phe171Ser | |
| NM_001139443.2:c.*1618A>G (BEST1) | NP_001132915.1:n.*1618A>G | |
| NM_001363591.2:c.*1618A>G (BEST1) | NP_001350520.1:n.*1618A>G | |
| NM_001363593.2:c.*1618A>G (BEST1) | NP_001350522.1:n.*1618A>G |