Linked Data
ClinVar Variation Id:
1314799
ClinVar RCV Id:
RCV001765840
dbSNP Id:
rs2126787863
gnomAD v4:
4-186287735-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186287735A>G , CM000666.2:g.186287735A>G | GRCh38 |
| NC_000004.11:g.187208889A>G , CM000666.1:g.187208889A>G | GRCh37 |
| NC_000004.10:g.187445883A>G | NCBI36 |
| NG_008051.1:g.26772A>G , LRG_583:g.26772A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1628A>G (F11) MANE Select | ENSP00000384957.2:p.Glu543Gly | |
| ENST00000264691.4:c.228A>G (F11) | ||
| ENST00000264692.8:c.1466A>G (F11) | ENSP00000264692.5:p.Glu489Gly | |
| ENST00000403665.6:c.1628A>G (F11) | ENSP00000384957.2:p.Glu543Gly | |
| ENST00000503841.1:n.147A>G (F11) | ||
| NM_000128.3:c.1628A>G , LRG_583t1:c.1628A>G (F11) | NP_000119.1:p.Glu543Gly | |
| NR_033900.1:n.1066+693T>C (F11-AS1) | ||
| XM_005262821.2:c.1631A>G (F11) | XP_005262878.1:p.Glu544Gly | |
| XM_005262822.2:c.1535A>G (F11) | XP_005262879.1:p.Glu512Gly | |
| XM_005262823.2:c.1361A>G (F11) | XP_005262880.1:p.Glu454Gly | |
| XM_006714137.1:c.1583A>G (F11) | XP_006714200.1:p.Glu528Gly | |
| XR_938707.1:n.1940A>G (F11) | ||
| XM_005262821.4:c.1631A>G (F11) | XP_005262878.1:p.Glu544Gly | |
| XM_005262822.4:c.1535A>G (F11) | XP_005262879.1:p.Glu512Gly | |
| XM_005262823.4:c.1361A>G (F11) | XP_005262880.1:p.Glu454Gly | |
| XM_006714137.3:c.1583A>G (F11) | XP_006714200.1:p.Glu528Gly | |
| NM_000128.4:c.1628A>G (F11) MANE Select | NP_000119.1:p.Glu543Gly |