Linked Data
ClinVar Variation Id:
2318282
ClinVar RCV Id:
RCV002888750
dbSNP Id:
rs773581347
ExAC:
4:187209641 A / G
gnomAD v2:
4-187209641-A-G
gnomAD v3:
4-186288487-A-G
gnomAD v4:
4-186288487-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288487A>G , CM000666.2:g.186288487A>G | GRCh38 |
| NC_000004.11:g.187209641A>G , CM000666.1:g.187209641A>G | GRCh37 |
| NC_000004.10:g.187446635A>G | NCBI36 |
| NG_008051.1:g.27524A>G , LRG_583:g.27524A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1751A>G (F11) MANE Select | ENSP00000384957.2:p.Asn584Ser | |
| ENST00000264691.4:c.351A>G (F11) | ||
| ENST00000264692.8:c.1589A>G (F11) | ENSP00000264692.5:p.Asn530Ser | |
| ENST00000403665.6:c.1751A>G (F11) | ENSP00000384957.2:p.Asn584Ser | |
| ENST00000503841.1:n.270A>G (F11) | ||
| NM_000128.3:c.1751A>G , LRG_583t1:c.1751A>G (F11) | NP_000119.1:p.Asn584Ser | |
| NR_033900.1:n.1007T>C (F11-AS1) | ||
| XM_005262821.2:c.1754A>G (F11) | XP_005262878.1:p.Asn585Ser | |
| XM_005262822.2:c.1658A>G (F11) | XP_005262879.1:p.Asn553Ser | |
| XM_005262823.2:c.1484A>G (F11) | XP_005262880.1:p.Asn495Ser | |
| XM_006714137.1:c.1706A>G (F11) | XP_006714200.1:p.Asn569Ser | |
| XM_005262821.4:c.1754A>G (F11) | XP_005262878.1:p.Asn585Ser | |
| XM_005262822.4:c.1658A>G (F11) | XP_005262879.1:p.Asn553Ser | |
| XM_005262823.4:c.1484A>G (F11) | XP_005262880.1:p.Asn495Ser | |
| XM_006714137.3:c.1706A>G (F11) | XP_006714200.1:p.Asn569Ser | |
| NM_000128.4:c.1751A>G (F11) MANE Select | NP_000119.1:p.Asn584Ser |