Linked Data
dbSNP Id:
rs760837043
ExAC:
4:187209673 T / A
gnomAD v2:
4-187209673-T-A
gnomAD v4:
4-186288519-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288519T>A , CM000666.2:g.186288519T>A | GRCh38 |
| NC_000004.11:g.187209673T>A , CM000666.1:g.187209673T>A | GRCh37 |
| NC_000004.10:g.187446667T>A | NCBI36 |
| NG_008051.1:g.27556T>A , LRG_583:g.27556T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1783T>A (F11) MANE Select | ENSP00000384957.2:p.Trp595Arg | |
| ENST00000264691.4:c.383T>A (F11) | ||
| ENST00000264692.8:c.1621T>A (F11) | ENSP00000264692.5:p.Trp541Arg | |
| ENST00000403665.6:c.1783T>A (F11) | ENSP00000384957.2:p.Trp595Arg | |
| ENST00000503841.1:n.302T>A (F11) | ||
| NM_000128.3:c.1783T>A , LRG_583t1:c.1783T>A (F11) | NP_000119.1:p.Trp595Arg | |
| NR_033900.1:n.975A>T (F11-AS1) | ||
| XM_005262821.2:c.1786T>A (F11) | XP_005262878.1:p.Trp596Arg | |
| XM_005262822.2:c.1690T>A (F11) | XP_005262879.1:p.Trp564Arg | |
| XM_005262823.2:c.1516T>A (F11) | XP_005262880.1:p.Trp506Arg | |
| XM_006714137.1:c.1738T>A (F11) | XP_006714200.1:p.Trp580Arg | |
| XM_005262821.4:c.1786T>A (F11) | XP_005262878.1:p.Trp596Arg | |
| XM_005262822.4:c.1690T>A (F11) | XP_005262879.1:p.Trp564Arg | |
| XM_005262823.4:c.1516T>A (F11) | XP_005262880.1:p.Trp506Arg | |
| XM_006714137.3:c.1738T>A (F11) | XP_006714200.1:p.Trp580Arg | |
| NM_000128.4:c.1783T>A (F11) MANE Select | NP_000119.1:p.Trp595Arg |