Linked Data
ClinVar Variation Id:
371214
ClinVar RCV Id:
RCV000411281
dbSNP Id:
rs145906668
ExAC:
4:187209668 C / T
gnomAD v2:
4-187209668-C-T
gnomAD v3:
4-186288514-C-T
gnomAD v4:
4-186288514-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288514C>T , CM000666.2:g.186288514C>T | GRCh38 |
| NC_000004.11:g.187209668C>T , CM000666.1:g.187209668C>T | GRCh37 |
| NC_000004.10:g.187446662C>T | NCBI36 |
| NG_008051.1:g.27551C>T , LRG_583:g.27551C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1778C>T (F11) MANE Select | ENSP00000384957.2:p.Thr593Met | |
| ENST00000264691.4:c.378C>T (F11) | ||
| ENST00000264692.8:c.1616C>T (F11) | ENSP00000264692.5:p.Thr539Met | |
| ENST00000403665.6:c.1778C>T (F11) | ENSP00000384957.2:p.Thr593Met | |
| ENST00000503841.1:n.297C>T (F11) | ||
| NM_000128.3:c.1778C>T , LRG_583t1:c.1778C>T (F11) | NP_000119.1:p.Thr593Met | |
| NR_033900.1:n.980G>A (F11-AS1) | ||
| XM_005262821.2:c.1781C>T (F11) | XP_005262878.1:p.Thr594Met | |
| XM_005262822.2:c.1685C>T (F11) | XP_005262879.1:p.Thr562Met | |
| XM_005262823.2:c.1511C>T (F11) | XP_005262880.1:p.Thr504Met | |
| XM_006714137.1:c.1733C>T (F11) | XP_006714200.1:p.Thr578Met | |
| XM_005262821.4:c.1781C>T (F11) | XP_005262878.1:p.Thr594Met | |
| XM_005262822.4:c.1685C>T (F11) | XP_005262879.1:p.Thr562Met | |
| XM_005262823.4:c.1511C>T (F11) | XP_005262880.1:p.Thr504Met | |
| XM_006714137.3:c.1733C>T (F11) | XP_006714200.1:p.Thr578Met | |
| NM_000128.4:c.1778C>T (F11) MANE Select | NP_000119.1:p.Thr593Met |