Linked Data
ClinVar Variation Id:
11900
ClinVar RCV Id:
RCV000012675
dbSNP Id:
rs28934609
gnomAD v4:
4-186288518-C-A
PubMed:
PMID:10606881
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288518C>A , CM000666.2:g.186288518C>A | GRCh38 |
| NC_000004.11:g.187209672C>A , CM000666.1:g.187209672C>A | GRCh37 |
| NC_000004.10:g.187446666C>A | NCBI36 |
| NG_008051.1:g.27555C>A , LRG_583:g.27555C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1782C>A (F11) MANE Select | ENSP00000384957.2:p.Ser594Arg | |
| ENST00000264691.4:c.382C>A (F11) | ||
| ENST00000264692.8:c.1620C>A (F11) | ENSP00000264692.5:p.Ser540Arg | |
| ENST00000403665.6:c.1782C>A (F11) | ENSP00000384957.2:p.Ser594Arg | |
| ENST00000503841.1:n.301C>A (F11) | ||
| NM_000128.3:c.1782C>A , LRG_583t1:c.1782C>A (F11) | NP_000119.1:p.Ser594Arg | |
| NR_033900.1:n.976G>T (F11-AS1) | ||
| XM_005262821.2:c.1785C>A (F11) | XP_005262878.1:p.Ser595Arg | |
| XM_005262822.2:c.1689C>A (F11) | XP_005262879.1:p.Ser563Arg | |
| XM_005262823.2:c.1515C>A (F11) | XP_005262880.1:p.Ser505Arg | |
| XM_006714137.1:c.1737C>A (F11) | XP_006714200.1:p.Ser579Arg | |
| XM_005262821.4:c.1785C>A (F11) | XP_005262878.1:p.Ser595Arg | |
| XM_005262822.4:c.1689C>A (F11) | XP_005262879.1:p.Ser563Arg | |
| XM_005262823.4:c.1515C>A (F11) | XP_005262880.1:p.Ser505Arg | |
| XM_006714137.3:c.1737C>A (F11) | XP_006714200.1:p.Ser579Arg | |
| NM_000128.4:c.1782C>A (F11) MANE Select | NP_000119.1:p.Ser594Arg |