Linked Data
ClinVar Variation Id:
2906243
ClinVar RCV Id:
RCV003734058
dbSNP Id:
rs142952627
gnomAD v2:
4-187208888-G-T
gnomAD v3:
4-186287734-G-T
gnomAD v4:
4-186287734-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186287734G>T , CM000666.2:g.186287734G>T | GRCh38 |
| NC_000004.11:g.187208888G>T , CM000666.1:g.187208888G>T | GRCh37 |
| NC_000004.10:g.187445882G>T | NCBI36 |
| NG_008051.1:g.26771G>T , LRG_583:g.26771G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1627G>T (F11) MANE Select | ENSP00000384957.2:p.Glu543Ter | |
| ENST00000264691.4:c.227G>T (F11) | ||
| ENST00000264692.8:c.1465G>T (F11) | ENSP00000264692.5:p.Glu489Ter | |
| ENST00000403665.6:c.1627G>T (F11) | ENSP00000384957.2:p.Glu543Ter | |
| ENST00000503841.1:n.146G>T (F11) | ||
| NM_000128.3:c.1627G>T , LRG_583t1:c.1627G>T (F11) | NP_000119.1:p.Glu543Ter | |
| NR_033900.1:n.1066+694C>A (F11-AS1) | ||
| XM_005262821.2:c.1630G>T (F11) | XP_005262878.1:p.Glu544Ter | |
| XM_005262822.2:c.1534G>T (F11) | XP_005262879.1:p.Glu512Ter | |
| XM_005262823.2:c.1360G>T (F11) | XP_005262880.1:p.Glu454Ter | |
| XM_006714137.1:c.1582G>T (F11) | XP_006714200.1:p.Glu528Ter | |
| XR_938707.1:n.1939G>T (F11) | ||
| XM_005262821.4:c.1630G>T (F11) | XP_005262878.1:p.Glu544Ter | |
| XM_005262822.4:c.1534G>T (F11) | XP_005262879.1:p.Glu512Ter | |
| XM_005262823.4:c.1360G>T (F11) | XP_005262880.1:p.Glu454Ter | |
| XM_006714137.3:c.1582G>T (F11) | XP_006714200.1:p.Glu528Ter | |
| NM_000128.4:c.1627G>T (F11) MANE Select | NP_000119.1:p.Glu543Ter |