Linked Data
dbSNP Id:
rs151121343
ExAC:
4:187208945 G / A
gnomAD v2:
4-187208945-G-A
gnomAD v3:
4-186287791-G-A
gnomAD v4:
4-186287791-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186287791G>A , CM000666.2:g.186287791G>A | GRCh38 |
| NC_000004.11:g.187208945G>A , CM000666.1:g.187208945G>A | GRCh37 |
| NC_000004.10:g.187445939G>A | NCBI36 |
| NG_008051.1:g.26828G>A , LRG_583:g.26828G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1684G>A (F11) MANE Select | ENSP00000384957.2:p.Gly562Ser | |
| ENST00000264691.4:c.284G>A (F11) | ||
| ENST00000264692.8:c.1522G>A (F11) | ENSP00000264692.5:p.Gly508Ser | |
| ENST00000403665.6:c.1684G>A (F11) | ENSP00000384957.2:p.Gly562Ser | |
| ENST00000503841.1:n.203G>A (F11) | ||
| NM_000128.3:c.1684G>A , LRG_583t1:c.1684G>A (F11) | NP_000119.1:p.Gly562Ser | |
| NR_033900.1:n.1066+637C>T (F11-AS1) | ||
| XM_005262821.2:c.1687G>A (F11) | XP_005262878.1:p.Gly563Ser | |
| XM_005262822.2:c.1591G>A (F11) | XP_005262879.1:p.Gly531Ser | |
| XM_005262823.2:c.1417G>A (F11) | XP_005262880.1:p.Gly473Ser | |
| XM_006714137.1:c.1639G>A (F11) | XP_006714200.1:p.Gly547Ser | |
| XM_005262821.4:c.1687G>A (F11) | XP_005262878.1:p.Gly563Ser | |
| XM_005262822.4:c.1591G>A (F11) | XP_005262879.1:p.Gly531Ser | |
| XM_005262823.4:c.1417G>A (F11) | XP_005262880.1:p.Gly473Ser | |
| XM_006714137.3:c.1639G>A (F11) | XP_006714200.1:p.Gly547Ser | |
| NM_000128.4:c.1684G>A (F11) MANE Select | NP_000119.1:p.Gly562Ser |