Linked Data
ClinVar Variation Id:
989874
ClinVar RCV Id:
RCV001277777
dbSNP Id:
rs760485042
ExAC:
4:187208970 C / G
gnomAD v4:
4-186287816-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186287816C>G , CM000666.2:g.186287816C>G | GRCh38 |
| NC_000004.11:g.187208970C>G , CM000666.1:g.187208970C>G | GRCh37 |
| NC_000004.10:g.187445964C>G | NCBI36 |
| NG_008051.1:g.26853C>G , LRG_583:g.26853C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1709C>G (F11) MANE Select | ENSP00000384957.2:p.Ala570Gly | |
| ENST00000264691.4:c.309C>G (F11) | ||
| ENST00000264692.8:c.1547C>G (F11) | ENSP00000264692.5:p.Ala516Gly | |
| ENST00000403665.6:c.1709C>G (F11) | ENSP00000384957.2:p.Ala570Gly | |
| ENST00000503841.1:n.228C>G (F11) | ||
| NM_000128.3:c.1709C>G , LRG_583t1:c.1709C>G (F11) | NP_000119.1:p.Ala570Gly | |
| NR_033900.1:n.1066+612G>C (F11-AS1) | ||
| XM_005262821.2:c.1712C>G (F11) | XP_005262878.1:p.Ala571Gly | |
| XM_005262822.2:c.1616C>G (F11) | XP_005262879.1:p.Ala539Gly | |
| XM_005262823.2:c.1442C>G (F11) | XP_005262880.1:p.Ala481Gly | |
| XM_006714137.1:c.1664C>G (F11) | XP_006714200.1:p.Ala555Gly | |
| XM_005262821.4:c.1712C>G (F11) | XP_005262878.1:p.Ala571Gly | |
| XM_005262822.4:c.1616C>G (F11) | XP_005262879.1:p.Ala539Gly | |
| XM_005262823.4:c.1442C>G (F11) | XP_005262880.1:p.Ala481Gly | |
| XM_006714137.3:c.1664C>G (F11) | XP_006714200.1:p.Ala555Gly | |
| NM_000128.4:c.1709C>G (F11) MANE Select | NP_000119.1:p.Ala570Gly |