Linked Data
ClinVar Variation Id:
1676751
ClinVar RCV Id:
RCV002222148
dbSNP Id:
rs2126791743
gnomAD v4:
4-186288588-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288588A>G , CM000666.2:g.186288588A>G | GRCh38 |
| NC_000004.11:g.187209742A>G , CM000666.1:g.187209742A>G | GRCh37 |
| NC_000004.10:g.187446736A>G | NCBI36 |
| NG_008051.1:g.27625A>G , LRG_583:g.27625A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1852A>G (F11) MANE Select | ENSP00000384957.2:p.Ile618Val | |
| ENST00000264691.4:c.452A>G (F11) | ||
| ENST00000264692.8:c.1690A>G (F11) | ENSP00000264692.5:p.Ile564Val | |
| ENST00000403665.6:c.1852A>G (F11) | ENSP00000384957.2:p.Ile618Val | |
| ENST00000503841.1:n.371A>G (F11) | ||
| NM_000128.3:c.1852A>G , LRG_583t1:c.1852A>G (F11) | NP_000119.1:p.Ile618Val | |
| NR_033900.1:n.906T>C (F11-AS1) | ||
| XM_005262821.2:c.1855A>G (F11) | XP_005262878.1:p.Ile619Val | |
| XM_005262822.2:c.1759A>G (F11) | XP_005262879.1:p.Ile587Val | |
| XM_005262823.2:c.1585A>G (F11) | XP_005262880.1:p.Ile529Val | |
| XM_006714137.1:c.1807A>G (F11) | XP_006714200.1:p.Ile603Val | |
| XM_005262821.4:c.1855A>G (F11) | XP_005262878.1:p.Ile619Val | |
| XM_005262822.4:c.1759A>G (F11) | XP_005262879.1:p.Ile587Val | |
| XM_005262823.4:c.1585A>G (F11) | XP_005262880.1:p.Ile529Val | |
| XM_006714137.3:c.1807A>G (F11) | XP_006714200.1:p.Ile603Val | |
| NM_000128.4:c.1852A>G (F11) MANE Select | NP_000119.1:p.Ile618Val |