Linked Data
ClinVar Variation Id:
551223
ClinVar RCV Id:
RCV000666223
dbSNP Id:
rs142952627
ExAC:
4:187208888 G / A
gnomAD v2:
4-187208888-G-A
gnomAD v3:
4-186287734-G-A
gnomAD v4:
4-186287734-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186287734G>A , CM000666.2:g.186287734G>A | GRCh38 |
| NC_000004.11:g.187208888G>A , CM000666.1:g.187208888G>A | GRCh37 |
| NC_000004.10:g.187445882G>A | NCBI36 |
| NG_008051.1:g.26771G>A , LRG_583:g.26771G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1627G>A (F11) MANE Select | ENSP00000384957.2:p.Glu543Lys | |
| ENST00000264691.4:c.227G>A (F11) | ||
| ENST00000264692.8:c.1465G>A (F11) | ENSP00000264692.5:p.Glu489Lys | |
| ENST00000403665.6:c.1627G>A (F11) | ENSP00000384957.2:p.Glu543Lys | |
| ENST00000503841.1:n.146G>A (F11) | ||
| NM_000128.3:c.1627G>A , LRG_583t1:c.1627G>A (F11) | NP_000119.1:p.Glu543Lys | |
| NR_033900.1:n.1066+694C>T (F11-AS1) | ||
| XM_005262821.2:c.1630G>A (F11) | XP_005262878.1:p.Glu544Lys | |
| XM_005262822.2:c.1534G>A (F11) | XP_005262879.1:p.Glu512Lys | |
| XM_005262823.2:c.1360G>A (F11) | XP_005262880.1:p.Glu454Lys | |
| XM_006714137.1:c.1582G>A (F11) | XP_006714200.1:p.Glu528Lys | |
| XR_938707.1:n.1939G>A (F11) | ||
| XM_005262821.4:c.1630G>A (F11) | XP_005262878.1:p.Glu544Lys | |
| XM_005262822.4:c.1534G>A (F11) | XP_005262879.1:p.Glu512Lys | |
| XM_005262823.4:c.1360G>A (F11) | XP_005262880.1:p.Glu454Lys | |
| XM_006714137.3:c.1582G>A (F11) | XP_006714200.1:p.Glu528Lys | |
| NM_000128.4:c.1627G>A (F11) MANE Select | NP_000119.1:p.Glu543Lys |