Linked Data
ClinVar Variation Id:
280137
dbSNP Id:
rs375422404
ExAC:
4:187207577 C / T
gnomAD v2:
4-187207577-C-T
gnomAD v3:
4-186286423-C-T
gnomAD v4:
4-186286423-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186286423C>T , CM000666.2:g.186286423C>T | GRCh38 |
| NC_000004.11:g.187207577C>T , CM000666.1:g.187207577C>T | GRCh37 |
| NC_000004.10:g.187444571C>T | NCBI36 |
| NG_008051.1:g.25460C>T , LRG_583:g.25460C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1489C>T (F11) MANE Select | ENSP00000384957.2:p.Arg497Ter | |
| ENST00000264691.4:c.176+610C>T (F11) | ||
| ENST00000264692.8:c.1327C>T (F11) | ENSP00000264692.5:p.Arg443Ter | |
| ENST00000403665.6:c.1489C>T (F11) | ENSP00000384957.2:p.Arg497Ter | |
| NM_000128.3:c.1489C>T , LRG_583t1:c.1489C>T (F11) | NP_000119.1:p.Arg497Ter | |
| NR_033900.1:n.1067-157G>A (F11-AS1) | ||
| XM_005262821.2:c.1492C>T (F11) | XP_005262878.1:p.Arg498Ter | |
| XM_005262822.2:c.1483+610C>T (F11) | XP_005262879.1:n.1483+610C>T | |
| XM_005262823.2:c.1222C>T (F11) | XP_005262880.1:p.Arg408Ter | |
| XM_005262824.1:c.1484-123C>T (F11) | XP_005262881.1:n.1484-123C>T | |
| XM_006714137.1:c.1444C>T (F11) | XP_006714200.1:p.Arg482Ter | |
| XR_938706.1:n.1897C>T (F11) | ||
| XR_938707.1:n.1888+610C>T (F11) | ||
| XM_005262821.4:c.1492C>T (F11) | XP_005262878.1:p.Arg498Ter | |
| XM_005262822.4:c.1483+610C>T (F11) | XP_005262879.1:n.1483+610C>T | |
| XM_005262823.4:c.1222C>T (F11) | XP_005262880.1:p.Arg408Ter | |
| XM_006714137.3:c.1444C>T (F11) | XP_006714200.1:p.Arg482Ter | |
| XR_001741172.2:n.1963C>T (F11) | ||
| NM_000128.4:c.1489C>T (F11) MANE Select | NP_000119.1:p.Arg497Ter |