Linked Data
dbSNP Id:
rs140068026
ExAC:
4:187207595 T / A
gnomAD v2:
4-187207595-T-A
gnomAD v3:
4-186286441-T-A
gnomAD v4:
4-186286441-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186286441T>A , CM000666.2:g.186286441T>A | GRCh38 |
| NC_000004.11:g.187207595T>A , CM000666.1:g.187207595T>A | GRCh37 |
| NC_000004.10:g.187444589T>A | NCBI36 |
| NG_008051.1:g.25478T>A , LRG_583:g.25478T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1507T>A (F11) MANE Select | ENSP00000384957.2:p.Ser503Thr | |
| ENST00000264691.4:c.176+628T>A (F11) | ||
| ENST00000264692.8:c.1345T>A (F11) | ENSP00000264692.5:p.Ser449Thr | |
| ENST00000403665.6:c.1507T>A (F11) | ENSP00000384957.2:p.Ser503Thr | |
| NM_000128.3:c.1507T>A , LRG_583t1:c.1507T>A (F11) | NP_000119.1:p.Ser503Thr | |
| NR_033900.1:n.1067-175A>T (F11-AS1) | ||
| XM_005262821.2:c.1510T>A (F11) | XP_005262878.1:p.Ser504Thr | |
| XM_005262822.2:c.1483+628T>A (F11) | XP_005262879.1:n.1483+628T>A | |
| XM_005262823.2:c.1240T>A (F11) | XP_005262880.1:p.Ser414Thr | |
| XM_005262824.1:c.1484-105T>A (F11) | XP_005262881.1:n.1484-105T>A | |
| XM_006714137.1:c.1462T>A (F11) | XP_006714200.1:p.Ser488Thr | |
| XR_938706.1:n.1915T>A (F11) | ||
| XR_938707.1:n.1888+628T>A (F11) | ||
| XM_005262821.4:c.1510T>A (F11) | XP_005262878.1:p.Ser504Thr | |
| XM_005262822.4:c.1483+628T>A (F11) | XP_005262879.1:n.1483+628T>A | |
| XM_005262823.4:c.1240T>A (F11) | XP_005262880.1:p.Ser414Thr | |
| XM_006714137.3:c.1462T>A (F11) | XP_006714200.1:p.Ser488Thr | |
| XR_001741172.2:n.1981T>A (F11) | ||
| NM_000128.4:c.1507T>A (F11) MANE Select | NP_000119.1:p.Ser503Thr |