Linked Data
ClinVar Variation Id:
2049826
ClinVar RCV Id:
RCV002914213
dbSNP Id:
rs41453449
ExAC:
11:61732853 A / C
gnomAD v2:
11-61732853-A-C
gnomAD v3:
11-61965381-A-C
gnomAD v4:
11-61965381-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61965381A>C , CM000673.2:g.61965381A>C | GRCh38 |
| NC_000011.9:g.61732853A>C , CM000673.1:g.61732853A>C | GRCh37 |
| NC_000011.8:g.61489429A>C | NCBI36 |
| NG_008346.1:g.7280T>G | |
| NG_009033.1:g.20498A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620041.5:c.249T>G (FTH1) | ENSP00000484477.1:p.Leu83= | |
| ENST00000273550.12:c.249T>G (FTH1) MANE Select | ENSP00000273550.7:p.Leu83= | |
| ENST00000273550.11:c.249T>G (FTH1) | ENSP00000273550.7:p.Leu83= | |
| ENST00000449131.6:c.*2232A>C (BEST1) | ENSP00000399709.2:n.*2232A>C | |
| ENST00000526640.5:c.159T>G (FTH1) | ENSP00000433321.1:p.Leu53= | |
| ENST00000529191.5:c.114+1931T>G (FTH1) | ENSP00000431659.1:n.114+1931T>G | |
| ENST00000529548.1:c.39T>G (FTH1) | ENSP00000436947.1:p.Leu13= | |
| ENST00000529631.5:c.114+1931T>G (FTH1) | ENSP00000431575.1:n.114+1931T>G | |
| ENST00000530019.5:c.249T>G (FTH1) | ENSP00000433470.1:p.Leu83= | |
| ENST00000532601.1:c.39T>G (FTH1) | ENSP00000435111.1:p.Leu13= | |
| ENST00000532829.5:c.249T>G (FTH1) | ENSP00000432223.1:p.Leu83= | |
| ENST00000533138.1:n.437T>G (FTH1) | ||
| ENST00000534180.1:c.*158T>G (FTH1) | ENSP00000434403.1:n.*158T>G | |
| ENST00000534719.1:n.410T>G (FTH1) | ||
| ENST00000620041.4:c.249T>G (FTH1) | ENSP00000484477.1:p.Leu83= | |
| NM_002032.2:c.249T>G (FTH1) | NP_002023.2:p.Leu83= | |
| NM_002032.3:c.249T>G (FTH1) MANE Select | NP_002023.2:p.Leu83= | |
| NM_001139443.2:c.*2232A>C (BEST1) | NP_001132915.1:n.*2232A>C | |
| NM_001363591.2:c.*2232A>C (BEST1) | NP_001350520.1:n.*2232A>C | |
| NM_001363593.2:c.*2232A>C (BEST1) | NP_001350522.1:n.*2232A>C |