Linked Data
dbSNP Id:
rs1224493660
gnomAD v2:
11-61732011-C-G
gnomAD v3:
11-61964539-C-G
gnomAD v4:
11-61964539-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61964539C>G , CM000673.2:g.61964539C>G | GRCh38 |
| NC_000011.9:g.61732011C>G , CM000673.1:g.61732011C>G | GRCh37 |
| NC_000011.8:g.61488587C>G | NCBI36 |
| NG_008346.1:g.8122G>C | |
| NG_009033.1:g.19656C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273550.12:c.*188G>C (FTH1) MANE Select | ENSP00000273550.7:n.*188G>C | |
| ENST00000273550.11:c.*188G>C (FTH1) | ENSP00000273550.7:n.*188G>C | |
| ENST00000449131.6:c.*1390C>G (BEST1) | ENSP00000399709.2:n.*1390C>G | |
| ENST00000529191.5:c.114+2773G>C (FTH1) | ENSP00000431659.1:n.114+2773G>C | |
| ENST00000529631.5:c.114+2773G>C (FTH1) | ENSP00000431575.1:n.114+2773G>C | |
| ENST00000530019.5:c.261+830G>C (FTH1) | ENSP00000433470.1:n.261+830G>C | |
| NM_002032.2:c.*188G>C (FTH1) | NP_002023.2:n.*188G>C | |
| NM_002032.3:c.*188G>C (FTH1) MANE Select | NP_002023.2:n.*188G>C | |
| NM_001139443.2:c.*1390C>G (BEST1) | NP_001132915.1:n.*1390C>G | |
| NM_001363591.2:c.*1390C>G (BEST1) | NP_001350520.1:n.*1390C>G | |
| NM_001363593.2:c.*1390C>G (BEST1) | NP_001350522.1:n.*1390C>G |