Linked Data
ClinVar Variation Id:
189154
ClinVar RCV Id:
RCV000169580
dbSNP Id:
rs139695003
ExAC:
4:187208874 C / T
gnomAD v2:
4-187208874-C-T
gnomAD v3:
4-186287720-C-T
gnomAD v4:
4-186287720-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186287720C>T , CM000666.2:g.186287720C>T | GRCh38 |
| NC_000004.11:g.187208874C>T , CM000666.1:g.187208874C>T | GRCh37 |
| NC_000004.10:g.187445868C>T | NCBI36 |
| NG_008051.1:g.26757C>T , LRG_583:g.26757C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1613C>T (F11) MANE Select | ENSP00000384957.2:p.Pro538Leu | |
| ENST00000264691.4:c.213C>T (F11) | ||
| ENST00000264692.8:c.1451C>T (F11) | ENSP00000264692.5:p.Pro484Leu | |
| ENST00000403665.6:c.1613C>T (F11) | ENSP00000384957.2:p.Pro538Leu | |
| ENST00000503841.1:n.132C>T (F11) | ||
| NM_000128.3:c.1613C>T , LRG_583t1:c.1613C>T (F11) | NP_000119.1:p.Pro538Leu | |
| NR_033900.1:n.1066+708G>A (F11-AS1) | ||
| XM_005262821.2:c.1616C>T (F11) | XP_005262878.1:p.Pro539Leu | |
| XM_005262822.2:c.1520C>T (F11) | XP_005262879.1:p.Pro507Leu | |
| XM_005262823.2:c.1346C>T (F11) | XP_005262880.1:p.Pro449Leu | |
| XM_006714137.1:c.1568C>T (F11) | XP_006714200.1:p.Pro523Leu | |
| XR_938707.1:n.1925C>T (F11) | ||
| XM_005262821.4:c.1616C>T (F11) | XP_005262878.1:p.Pro539Leu | |
| XM_005262822.4:c.1520C>T (F11) | XP_005262879.1:p.Pro507Leu | |
| XM_005262823.4:c.1346C>T (F11) | XP_005262880.1:p.Pro449Leu | |
| XM_006714137.3:c.1568C>T (F11) | XP_006714200.1:p.Pro523Leu | |
| NM_000128.4:c.1613C>T (F11) MANE Select | NP_000119.1:p.Pro538Leu |