Linked Data
dbSNP Id:
rs1373976472
gnomAD v2:
11-61732201-A-G
gnomAD v3:
11-61964729-A-G
gnomAD v4:
11-61964729-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61964729A>G , CM000673.2:g.61964729A>G | GRCh38 |
| NC_000011.9:g.61732201A>G , CM000673.1:g.61732201A>G | GRCh37 |
| NC_000011.8:g.61488777A>G | NCBI36 |
| NG_008346.1:g.7932T>C | |
| NG_009033.1:g.19846A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620041.5:c.550T>C (FTH1) | ENSP00000484477.1:p.Ter184Gln | |
| ENST00000273550.12:c.550T>C (FTH1) MANE Select | ENSP00000273550.7:p.Ter184Gln | |
| ENST00000273550.11:c.550T>C (FTH1) | ENSP00000273550.7:p.Ter184Gln | |
| ENST00000449131.6:c.*1580A>G (BEST1) | ENSP00000399709.2:n.*1580A>G | |
| ENST00000526640.5:c.460T>C (FTH1) | ENSP00000433321.1:p.Ter154Gln | |
| ENST00000529191.5:c.114+2583T>C (FTH1) | ENSP00000431659.1:n.114+2583T>C | |
| ENST00000529631.5:c.114+2583T>C (FTH1) | ENSP00000431575.1:n.114+2583T>C | |
| ENST00000530019.5:c.261+640T>C (FTH1) | ENSP00000433470.1:n.261+640T>C | |
| ENST00000532601.1:c.340T>C (FTH1) | ENSP00000435111.1:p.Ter114Gln | |
| ENST00000532829.5:c.*255T>C (FTH1) | ENSP00000432223.1:n.*255T>C | |
| ENST00000534180.1:c.*459T>C (FTH1) | ENSP00000434403.1:n.*459T>C | |
| ENST00000620041.4:c.550T>C (FTH1) | ENSP00000484477.1:p.Ter184Gln | |
| NM_002032.2:c.550T>C (FTH1) | NP_002023.2:p.Ter184Gln | |
| NM_002032.3:c.550T>C (FTH1) MANE Select | NP_002023.2:p.Ter184Gln | |
| NM_001139443.2:c.*1580A>G (BEST1) | NP_001132915.1:n.*1580A>G | |
| NM_001363591.2:c.*1580A>G (BEST1) | NP_001350520.1:n.*1580A>G | |
| NM_001363593.2:c.*1580A>G (BEST1) | NP_001350522.1:n.*1580A>G |