Linked Data
ClinVar Variation Id:
2506193
ClinVar RCV Id:
RCV003236424
dbSNP Id:
rs748693003
gnomAD v3:
6-26092882-G-T
gnomAD v4:
6-26092882-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26092882G>T , CM000668.2:g.26092882G>T | GRCh38 |
| NC_000006.11:g.26093110G>T , CM000668.1:g.26093110G>T | GRCh37 |
| NC_000006.10:g.26201089G>T | NCBI36 |
| NG_008720.2:g.10602G>T , LRG_748:g.10602G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485729.2:c.814G>T (HFE) | ENSP00000417534.2:p.Val272Leu | |
| ENST00000707188.1:c.391-1848C>A (H2BC4) | ENSP00000516775.1:n.391-1848C>A | |
| ENST00000357618.10:c.814G>T (HFE) MANE Select | ENSP00000417404.1:p.Val272Leu | |
| ENST00000309234.10:c.814G>T (HFE) | ENSP00000311698.6:p.Val272Leu | |
| ENST00000317896.11:c.538G>T (HFE) | ENSP00000313776.7:p.Val180Leu | |
| ENST00000336625.12:c.496G>T (HFE) | ENSP00000337819.8:p.Val166Leu | |
| ENST00000349999.8:c.550G>T (HFE) | ENSP00000259699.6:p.Val184Leu | |
| ENST00000352392.8:c.77-237G>T (HFE) | ENSP00000315936.4:n.77-237G>T | |
| ENST00000353147.9:c.274G>T (HFE) | ENSP00000312342.5:p.Val92Leu | |
| ENST00000357618.9:c.814G>T (HFE) | ENSP00000417404.1:p.Val272Leu | |
| ENST00000397022.7:c.745G>T (HFE) | ENSP00000380217.3:p.Val249Leu | |
| ENST00000461397.5:c.772G>T (HFE) | ENSP00000420802.1:p.Val258Leu | |
| ENST00000470149.5:c.805G>T (HFE) | ENSP00000419725.1:p.Val269Leu | |
| ENST00000483782.1:n.1145G>T (HFE) | ||
| ENST00000486147.1:n.657G>T (HFE) | ||
| ENST00000488199.5:c.508G>T (HFE) | ENSP00000420559.1:p.Val170Leu | |
| ENST00000629531.1:c.132+30891C>A (H2BC3) | ENSP00000486472.1:n.132+30891C>A | |
| NM_000410.3:c.814G>T , LRG_748t1:c.814G>T (HFE) | NP_000401.1:p.Val272Leu | |
| NM_001300749.1:c.814G>T (HFE) | NP_001287678.1:p.Val272Leu | |
| NM_139003.2:c.496G>T (HFE) | NP_620572.1:p.Val166Leu | |
| NM_139004.2:c.538G>T (HFE) | NP_620573.1:p.Val180Leu | |
| NM_139006.2:c.772G>T (HFE) | NP_620575.1:p.Val258Leu | |
| NM_139007.2:c.550G>T (HFE) | NP_620576.1:p.Val184Leu | |
| NM_139008.2:c.508G>T (HFE) | NP_620577.1:p.Val170Leu | |
| NM_139009.2:c.745G>T (HFE) | NP_620578.1:p.Val249Leu | |
| NM_139010.2:c.274G>T (HFE) | NP_620579.1:p.Val92Leu | |
| NM_139011.2:c.77-237G>T (HFE) | NP_620580.1:n.77-237G>T | |
| XM_011514543.1:c.814G>T (HFE) | XP_011512845.1:p.Val272Leu | |
| XM_011514544.1:c.805G>T (HFE) | XP_011512846.1:p.Val269Leu | |
| XR_241893.2:n.936G>T (HFE) | ||
| XM_011514543.3:c.814G>T (HFE) | XP_011512845.1:p.Val272Leu | |
| XR_241893.4:n.908G>T (HFE) | ||
| NM_001300749.2:c.814G>T (HFE) | NP_001287678.1:p.Val272Leu | |
| NM_139003.3:c.496G>T (HFE) | NP_620572.1:p.Val166Leu | |
| NM_139004.3:c.538G>T (HFE) | NP_620573.1:p.Val180Leu | |
| NM_139006.3:c.772G>T (HFE) | NP_620575.1:p.Val258Leu | |
| NM_139007.3:c.550G>T (HFE) | NP_620576.1:p.Val184Leu | |
| NM_139008.3:c.508G>T (HFE) | NP_620577.1:p.Val170Leu | |
| NM_139009.3:c.745G>T (HFE) | NP_620578.1:p.Val249Leu | |
| NM_139010.3:c.274G>T (HFE) | NP_620579.1:p.Val92Leu | |
| NM_139011.3:c.77-237G>T (HFE) | NP_620580.1:n.77-237G>T | |
| NM_000410.4:c.814G>T (HFE) MANE Select | NP_000401.1:p.Val272Leu | |
| NM_001384164.1:c.814G>T (HFE) | NP_001371093.1:p.Val272Leu |