Linked Data
ClinVar Variation Id:
305143
dbSNP Id:
rs201120647
ExAC:
11:61732447 T / C
gnomAD v2:
11-61732447-T-C
gnomAD v3:
11-61964975-T-C
gnomAD v4:
11-61964975-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61964975T>C , CM000673.2:g.61964975T>C | GRCh38 |
| NC_000011.9:g.61732447T>C , CM000673.1:g.61732447T>C | GRCh37 |
| NC_000011.8:g.61489023T>C | NCBI36 |
| NG_008346.1:g.7686A>G | |
| NG_009033.1:g.20092T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000620041.5:c.387+12A>G (FTH1) | ENSP00000484477.1:n.387+12A>G | |
| ENST00000273550.12:c.387+12A>G (FTH1) MANE Select | ENSP00000273550.7:n.387+12A>G | |
| ENST00000273550.11:c.387+12A>G (FTH1) | ENSP00000273550.7:n.387+12A>G | |
| ENST00000449131.6:c.*1826T>C (BEST1) | ENSP00000399709.2:n.*1826T>C | |
| ENST00000526640.5:c.297+12A>G (FTH1) | ENSP00000433321.1:n.297+12A>G | |
| ENST00000529191.5:c.114+2337A>G (FTH1) | ENSP00000431659.1:n.114+2337A>G | |
| ENST00000529631.5:c.114+2337A>G (FTH1) | ENSP00000431575.1:n.114+2337A>G | |
| ENST00000530019.5:c.261+394A>G (FTH1) | ENSP00000433470.1:n.261+394A>G | |
| ENST00000532601.1:c.177+12A>G (FTH1) | ENSP00000435111.1:n.177+12A>G | |
| ENST00000532829.5:c.*92+12A>G (FTH1) | ENSP00000432223.1:n.*92+12A>G | |
| ENST00000533138.1:n.831+12A>G (FTH1) | ||
| ENST00000534180.1:c.*296+12A>G (FTH1) | ENSP00000434403.1:n.*296+12A>G | |
| ENST00000534719.1:n.560A>G (FTH1) | ||
| ENST00000620041.4:c.387+12A>G (FTH1) | ENSP00000484477.1:n.387+12A>G | |
| NM_002032.2:c.387+12A>G (FTH1) | NP_002023.2:n.387+12A>G | |
| NM_002032.3:c.387+12A>G (FTH1) MANE Select | NP_002023.2:n.387+12A>G | |
| NM_001139443.2:c.*1826T>C (BEST1) | NP_001132915.1:n.*1826T>C | |
| NM_001363591.2:c.*1826T>C (BEST1) | NP_001350520.1:n.*1826T>C | |
| NM_001363593.2:c.*1826T>C (BEST1) | NP_001350522.1:n.*1826T>C |