Linked-Data Service Error:
Error
Failed to retrieve aggregated linked-data
Status
NodeJS Error object: timeout of 3500ms exceeded
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26097156T>C , CM000668.2:g.26097156T>C | GRCh38 |
| NC_000006.11:g.26097384T>C , CM000668.1:g.26097384T>C | GRCh37 |
| NC_000006.10:g.26205363T>C | NCBI36 |
| NG_008720.2:g.14876T>C , LRG_748:g.14876T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707188.1:c.391-6122A>G (H2BC4) | ENSP00000516775.1:n.391-6122A>G | |
| ENST00000357618.10:c.*2930T>C (HFE) MANE Select | ENSP00000417404.1:n.*2930T>C | |
| ENST00000357618.9:c.*2930T>C (HFE) | ENSP00000417404.1:n.*2930T>C | |
| ENST00000629531.1:c.132+26617A>G (H2BC3) | ENSP00000486472.1:n.132+26617A>G | |
| NM_139003.3:c.*2930T>C (HFE) | NP_620572.1:n.*2930T>C | |
| NM_139004.3:c.*2930T>C (HFE) | NP_620573.1:n.*2930T>C | |
| NM_139006.3:c.*2930T>C (HFE) | NP_620575.1:n.*2930T>C | |
| NM_139007.3:c.*2930T>C (HFE) | NP_620576.1:n.*2930T>C | |
| NM_139008.3:c.*2930T>C (HFE) | NP_620577.1:n.*2930T>C | |
| NM_139009.3:c.*2930T>C (HFE) | NP_620578.1:n.*2930T>C | |
| NM_139010.3:c.*2930T>C (HFE) | NP_620579.1:n.*2930T>C | |
| NM_139011.3:c.*2930T>C (HFE) | NP_620580.1:n.*2930T>C | |
| NM_000410.4:c.*2930T>C (HFE) MANE Select | NP_000401.1:n.*2930T>C | |
| NM_001384164.1:c.*2745T>C (HFE) | NP_001371093.1:n.*2745T>C |