Linked Data
ClinVar Variation Id:
305144
ClinVar RCV Id:
RCV001823894
dbSNP Id:
rs886048432
gnomAD v4:
11-61965422-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61965422G>A , CM000673.2:g.61965422G>A | GRCh38 |
| NC_000011.9:g.61732894G>A , CM000673.1:g.61732894G>A | GRCh37 |
| NC_000011.8:g.61489470G>A | NCBI36 |
| NG_008346.1:g.7239C>T | |
| NG_009033.1:g.20539G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620041.5:c.208C>T (FTH1) | ENSP00000484477.1:p.Leu70= | |
| ENST00000273550.12:c.208C>T (FTH1) MANE Select | ENSP00000273550.7:p.Leu70= | |
| ENST00000273550.11:c.208C>T (FTH1) | ENSP00000273550.7:p.Leu70= | |
| ENST00000449131.6:c.*2273G>A (BEST1) | ENSP00000399709.2:n.*2273G>A | |
| ENST00000526640.5:c.118C>T (FTH1) | ENSP00000433321.1:p.Leu40= | |
| ENST00000529191.5:c.114+1890C>T (FTH1) | ENSP00000431659.1:n.114+1890C>T | |
| ENST00000529548.1:c.-3C>T (FTH1) | ENSP00000436947.1:n.-3C>T | |
| ENST00000529631.5:c.114+1890C>T (FTH1) | ENSP00000431575.1:n.114+1890C>T | |
| ENST00000530019.5:c.208C>T (FTH1) | ENSP00000433470.1:p.Leu70= | |
| ENST00000532601.1:c.-3C>T (FTH1) | ENSP00000435111.1:n.-3C>T | |
| ENST00000532829.5:c.208C>T (FTH1) | ENSP00000432223.1:p.Leu70= | |
| ENST00000533138.1:n.396C>T (FTH1) | ||
| ENST00000534180.1:c.*117C>T (FTH1) | ENSP00000434403.1:n.*117C>T | |
| ENST00000534719.1:n.369C>T (FTH1) | ||
| ENST00000620041.4:c.208C>T (FTH1) | ENSP00000484477.1:p.Leu70= | |
| NM_002032.2:c.208C>T (FTH1) | NP_002023.2:p.Leu70= | |
| NM_002032.3:c.208C>T (FTH1) MANE Select | NP_002023.2:p.Leu70= | |
| NM_001139443.2:c.*2273G>A (BEST1) | NP_001132915.1:n.*2273G>A | |
| NM_001363591.2:c.*2273G>A (BEST1) | NP_001350520.1:n.*2273G>A | |
| NM_001363593.2:c.*2273G>A (BEST1) | NP_001350522.1:n.*2273G>A |