Linked Data
ClinVar Variation Id:
9
ClinVar RCV Id:
RCV000000019
RCV000178096
RCV000210820
RCV000308358
RCV000414811
RCV001248830
RCV001270034
RCV001731264
RCV002280089
RCV002512585
RCV003224084
RCV003493406
dbSNP Id:
rs1800562
ExAC:
6:26093141 G / A
gnomAD v2:
6-26093141-G-A
gnomAD v3:
6-26092913-G-A
gnomAD v4:
6-26092913-G-A
PubMed:
PMID:678784
PMID:8696333
PMID:8896549
PMID:8896550
PMID:8916933
PMID:8931958
PMID:8943161
PMID:9024376
PMID:9138148
PMID:9162021
PMID:9211748
PMID:9292507
PMID:9321765
PMID:9341868
PMID:9356458
PMID:9439654
PMID:9462220
PMID:9531249
PMID:9569177
PMID:9585606
PMID:9694698
PMID:9851896
PMID:9851897
PMID:9869612
PMID:10027711
PMID:10348711
PMID:10381492
PMID:10401000
PMID:10406905
PMID:10431233
PMID:10477778
PMID:10673304
PMID:11040194
PMID:11380448
PMID:11583312
PMID:11812557
PMID:12241803
PMID:12429850
PMID:12436244
PMID:12915468
PMID:14618419
PMID:14729817
PMID:15059842
PMID:15060098
PMID:15070663
PMID:15280838
PMID:15347835
PMID:15858186
PMID:16879202
PMID:18199861
PMID:18499578
PMID:18504828
PMID:18566337
PMID:19084217
PMID:19159930
PMID:19444013
PMID:19554541
PMID:20301613
PMID:20723024
PMID:21452290
PMID:22021457
PMID:22023246
PMID:22909823
PMID:24619398
PMID:25528068
PMID:26365338
PMID:27124787
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26092913G>A , CM000668.2:g.26092913G>A | GRCh38 |
| NC_000006.11:g.26093141G>A , CM000668.1:g.26093141G>A | GRCh37 |
| NC_000006.10:g.26201120G>A | NCBI36 |
| NG_008720.2:g.10633G>A , LRG_748:g.10633G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485729.2:c.845G>A (HFE) | ENSP00000417534.2:p.Cys282Tyr | |
| ENST00000707188.1:c.391-1879C>T (H2BC4) | ENSP00000516775.1:n.391-1879C>T | |
| ENST00000357618.10:c.845G>A (HFE) MANE Select | ENSP00000417404.1:p.Cys282Tyr | |
| ENST00000309234.10:c.845G>A (HFE) | ENSP00000311698.6:p.Cys282Tyr | |
| ENST00000317896.11:c.569G>A (HFE) | ENSP00000313776.7:p.Cys190Tyr | |
| ENST00000336625.12:c.527G>A (HFE) | ENSP00000337819.8:p.Cys176Tyr | |
| ENST00000349999.8:c.581G>A (HFE) | ENSP00000259699.6:p.Cys194Tyr | |
| ENST00000352392.8:c.77-206G>A (HFE) | ENSP00000315936.4:n.77-206G>A | |
| ENST00000353147.9:c.305G>A (HFE) | ENSP00000312342.5:p.Cys102Tyr | |
| ENST00000357618.9:c.845G>A (HFE) | ENSP00000417404.1:p.Cys282Tyr | |
| ENST00000397022.7:c.776G>A (HFE) | ENSP00000380217.3:p.Cys259Tyr | |
| ENST00000461397.5:c.803G>A (HFE) | ENSP00000420802.1:p.Cys268Tyr | |
| ENST00000470149.5:c.836G>A (HFE) | ENSP00000419725.1:p.Cys279Tyr | |
| ENST00000483782.1:n.1176G>A (HFE) | ||
| ENST00000486147.1:n.688G>A (HFE) | ||
| ENST00000488199.5:c.539G>A (HFE) | ENSP00000420559.1:p.Cys180Tyr | |
| ENST00000629531.1:c.132+30860C>T (H2BC3) | ENSP00000486472.1:n.132+30860C>T | |
| NM_000410.3:c.845G>A , LRG_748t1:c.845G>A (HFE) | NP_000401.1:p.Cys282Tyr | |
| NM_001300749.1:c.845G>A (HFE) | NP_001287678.1:p.Cys282Tyr | |
| NM_139003.2:c.527G>A (HFE) | NP_620572.1:p.Cys176Tyr | |
| NM_139004.2:c.569G>A (HFE) | NP_620573.1:p.Cys190Tyr | |
| NM_139006.2:c.803G>A (HFE) | NP_620575.1:p.Cys268Tyr | |
| NM_139007.2:c.581G>A (HFE) | NP_620576.1:p.Cys194Tyr | |
| NM_139008.2:c.539G>A (HFE) | NP_620577.1:p.Cys180Tyr | |
| NM_139009.2:c.776G>A (HFE) | NP_620578.1:p.Cys259Tyr | |
| NM_139010.2:c.305G>A (HFE) | NP_620579.1:p.Cys102Tyr | |
| NM_139011.2:c.77-206G>A (HFE) | NP_620580.1:n.77-206G>A | |
| XM_011514543.1:c.845G>A (HFE) | XP_011512845.1:p.Cys282Tyr | |
| XM_011514544.1:c.836G>A (HFE) | XP_011512846.1:p.Cys279Tyr | |
| XR_241893.2:n.967G>A (HFE) | ||
| XM_011514543.3:c.845G>A (HFE) | XP_011512845.1:p.Cys282Tyr | |
| XR_241893.4:n.939G>A (HFE) | ||
| NM_001300749.2:c.845G>A (HFE) | NP_001287678.1:p.Cys282Tyr | |
| NM_139003.3:c.527G>A (HFE) | NP_620572.1:p.Cys176Tyr | |
| NM_139004.3:c.569G>A (HFE) | NP_620573.1:p.Cys190Tyr | |
| NM_139006.3:c.803G>A (HFE) | NP_620575.1:p.Cys268Tyr | |
| NM_139007.3:c.581G>A (HFE) | NP_620576.1:p.Cys194Tyr | |
| NM_139008.3:c.539G>A (HFE) | NP_620577.1:p.Cys180Tyr | |
| NM_139009.3:c.776G>A (HFE) | NP_620578.1:p.Cys259Tyr | |
| NM_139010.3:c.305G>A (HFE) | NP_620579.1:p.Cys102Tyr | |
| NM_139011.3:c.77-206G>A (HFE) | NP_620580.1:n.77-206G>A | |
| NM_000410.4:c.845G>A (HFE) MANE Select | NP_000401.1:p.Cys282Tyr | |
| NM_001384164.1:c.845G>A (HFE) | NP_001371093.1:p.Cys282Tyr |