Linked Data
ClinVar Variation Id:
68183
ClinVar RCV Id:
RCV000059015
dbSNP Id:
rs281875249
gnomAD v4:
4-186286475-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186286475G>T , CM000666.2:g.186286475G>T | GRCh38 |
| NC_000004.11:g.187207629G>T , CM000666.1:g.187207629G>T | GRCh37 |
| NC_000004.10:g.187444623G>T | NCBI36 |
| NG_008051.1:g.25512G>T , LRG_583:g.25512G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1541G>T (F11) MANE Select | ENSP00000384957.2:p.Cys514Phe | |
| ENST00000264691.4:c.176+662G>T (F11) | ||
| ENST00000264692.8:c.1379G>T (F11) | ENSP00000264692.5:p.Cys460Phe | |
| ENST00000403665.6:c.1541G>T (F11) | ENSP00000384957.2:p.Cys514Phe | |
| NM_000128.3:c.1541G>T , LRG_583t1:c.1541G>T (F11) | NP_000119.1:p.Cys514Phe | |
| NR_033900.1:n.1067-209C>A (F11-AS1) | ||
| XM_005262821.2:c.1544G>T (F11) | XP_005262878.1:p.Cys515Phe | |
| XM_005262822.2:c.1483+662G>T (F11) | XP_005262879.1:n.1483+662G>T | |
| XM_005262823.2:c.1274G>T (F11) | XP_005262880.1:p.Cys425Phe | |
| XM_005262824.1:c.1484-71G>T (F11) | XP_005262881.1:n.1484-71G>T | |
| XM_006714137.1:c.1496G>T (F11) | XP_006714200.1:p.Cys499Phe | |
| XR_938706.1:n.1949G>T (F11) | ||
| XR_938707.1:n.1888+662G>T (F11) | ||
| XM_005262821.4:c.1544G>T (F11) | XP_005262878.1:p.Cys515Phe | |
| XM_005262822.4:c.1483+662G>T (F11) | XP_005262879.1:n.1483+662G>T | |
| XM_005262823.4:c.1274G>T (F11) | XP_005262880.1:p.Cys425Phe | |
| XM_006714137.3:c.1496G>T (F11) | XP_006714200.1:p.Cys499Phe | |
| XR_001741172.2:n.2015G>T (F11) | ||
| NM_000128.4:c.1541G>T (F11) MANE Select | NP_000119.1:p.Cys514Phe |