Linked Data
ClinVar Variation Id:
2904697
ClinVar RCV Id:
RCV003751275
dbSNP Id:
rs773624350
ExAC:
6:26093115 C / T
gnomAD v2:
6-26093115-C-T
gnomAD v4:
6-26092887-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26092887C>T , CM000668.2:g.26092887C>T | GRCh38 |
| NC_000006.11:g.26093115C>T , CM000668.1:g.26093115C>T | GRCh37 |
| NC_000006.10:g.26201094C>T | NCBI36 |
| NG_008720.2:g.10607C>T , LRG_748:g.10607C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485729.2:c.819C>T (HFE) | ENSP00000417534.2:p.Pro273= | |
| ENST00000707188.1:c.391-1853G>A (H2BC4) | ENSP00000516775.1:n.391-1853G>A | |
| ENST00000357618.10:c.819C>T (HFE) MANE Select | ENSP00000417404.1:p.Pro273= | |
| ENST00000309234.10:c.819C>T (HFE) | ENSP00000311698.6:p.Pro273= | |
| ENST00000317896.11:c.543C>T (HFE) | ENSP00000313776.7:p.Pro181= | |
| ENST00000336625.12:c.501C>T (HFE) | ENSP00000337819.8:p.Pro167= | |
| ENST00000349999.8:c.555C>T (HFE) | ENSP00000259699.6:p.Pro185= | |
| ENST00000352392.8:c.77-232C>T (HFE) | ENSP00000315936.4:n.77-232C>T | |
| ENST00000353147.9:c.279C>T (HFE) | ENSP00000312342.5:p.Pro93= | |
| ENST00000357618.9:c.819C>T (HFE) | ENSP00000417404.1:p.Pro273= | |
| ENST00000397022.7:c.750C>T (HFE) | ENSP00000380217.3:p.Pro250= | |
| ENST00000461397.5:c.777C>T (HFE) | ENSP00000420802.1:p.Pro259= | |
| ENST00000470149.5:c.810C>T (HFE) | ENSP00000419725.1:p.Pro270= | |
| ENST00000483782.1:n.1150C>T (HFE) | ||
| ENST00000486147.1:n.662C>T (HFE) | ||
| ENST00000488199.5:c.513C>T (HFE) | ENSP00000420559.1:p.Pro171= | |
| ENST00000629531.1:c.132+30886G>A (H2BC3) | ENSP00000486472.1:n.132+30886G>A | |
| NM_000410.3:c.819C>T , LRG_748t1:c.819C>T (HFE) | NP_000401.1:p.Pro273= | |
| NM_001300749.1:c.819C>T (HFE) | NP_001287678.1:p.Pro273= | |
| NM_139003.2:c.501C>T (HFE) | NP_620572.1:p.Pro167= | |
| NM_139004.2:c.543C>T (HFE) | NP_620573.1:p.Pro181= | |
| NM_139006.2:c.777C>T (HFE) | NP_620575.1:p.Pro259= | |
| NM_139007.2:c.555C>T (HFE) | NP_620576.1:p.Pro185= | |
| NM_139008.2:c.513C>T (HFE) | NP_620577.1:p.Pro171= | |
| NM_139009.2:c.750C>T (HFE) | NP_620578.1:p.Pro250= | |
| NM_139010.2:c.279C>T (HFE) | NP_620579.1:p.Pro93= | |
| NM_139011.2:c.77-232C>T (HFE) | NP_620580.1:n.77-232C>T | |
| XM_011514543.1:c.819C>T (HFE) | XP_011512845.1:p.Pro273= | |
| XM_011514544.1:c.810C>T (HFE) | XP_011512846.1:p.Pro270= | |
| XR_241893.2:n.941C>T (HFE) | ||
| XM_011514543.3:c.819C>T (HFE) | XP_011512845.1:p.Pro273= | |
| XR_241893.4:n.913C>T (HFE) | ||
| NM_001300749.2:c.819C>T (HFE) | NP_001287678.1:p.Pro273= | |
| NM_139003.3:c.501C>T (HFE) | NP_620572.1:p.Pro167= | |
| NM_139004.3:c.543C>T (HFE) | NP_620573.1:p.Pro181= | |
| NM_139006.3:c.777C>T (HFE) | NP_620575.1:p.Pro259= | |
| NM_139007.3:c.555C>T (HFE) | NP_620576.1:p.Pro185= | |
| NM_139008.3:c.513C>T (HFE) | NP_620577.1:p.Pro171= | |
| NM_139009.3:c.750C>T (HFE) | NP_620578.1:p.Pro250= | |
| NM_139010.3:c.279C>T (HFE) | NP_620579.1:p.Pro93= | |
| NM_139011.3:c.77-232C>T (HFE) | NP_620580.1:n.77-232C>T | |
| NM_000410.4:c.819C>T (HFE) MANE Select | NP_000401.1:p.Pro273= | |
| NM_001384164.1:c.819C>T (HFE) | NP_001371093.1:p.Pro273= |