Linked Data
ClinVar Variation Id:
2768257
ClinVar RCV Id:
RCV003576286
dbSNP Id:
rs1580110270
gnomAD v3:
4-186288508-G-A
gnomAD v4:
4-186288508-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288508G>A , CM000666.2:g.186288508G>A | GRCh38 |
| NC_000004.11:g.187209662G>A , CM000666.1:g.187209662G>A | GRCh37 |
| NC_000004.10:g.187446656G>A | NCBI36 |
| NG_008051.1:g.27545G>A , LRG_583:g.27545G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1772G>A (F11) MANE Select | ENSP00000384957.2:p.Gly591Asp | |
| ENST00000264691.4:c.372G>A (F11) | ||
| ENST00000264692.8:c.1610G>A (F11) | ENSP00000264692.5:p.Gly537Asp | |
| ENST00000403665.6:c.1772G>A (F11) | ENSP00000384957.2:p.Gly591Asp | |
| ENST00000503841.1:n.291G>A (F11) | ||
| NM_000128.3:c.1772G>A , LRG_583t1:c.1772G>A (F11) | NP_000119.1:p.Gly591Asp | |
| NR_033900.1:n.986C>T (F11-AS1) | ||
| XM_005262821.2:c.1775G>A (F11) | XP_005262878.1:p.Gly592Asp | |
| XM_005262822.2:c.1679G>A (F11) | XP_005262879.1:p.Gly560Asp | |
| XM_005262823.2:c.1505G>A (F11) | XP_005262880.1:p.Gly502Asp | |
| XM_006714137.1:c.1727G>A (F11) | XP_006714200.1:p.Gly576Asp | |
| XM_005262821.4:c.1775G>A (F11) | XP_005262878.1:p.Gly592Asp | |
| XM_005262822.4:c.1679G>A (F11) | XP_005262879.1:p.Gly560Asp | |
| XM_005262823.4:c.1505G>A (F11) | XP_005262880.1:p.Gly502Asp | |
| XM_006714137.3:c.1727G>A (F11) | XP_006714200.1:p.Gly576Asp | |
| NM_000128.4:c.1772G>A (F11) MANE Select | NP_000119.1:p.Gly591Asp |