Linked Data
dbSNP Id:
rs757661087
ExAC:
4:187209610 G / T
gnomAD v2:
4-187209610-G-T
gnomAD v4:
4-186288456-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288456G>T , CM000666.2:g.186288456G>T | GRCh38 |
| NC_000004.11:g.187209610G>T , CM000666.1:g.187209610G>T | GRCh37 |
| NC_000004.10:g.187446604G>T | NCBI36 |
| NG_008051.1:g.27493G>T , LRG_583:g.27493G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1720G>T (F11) MANE Select | ENSP00000384957.2:p.Asp574Tyr | |
| ENST00000264691.4:c.320G>T (F11) | ||
| ENST00000264692.8:c.1558G>T (F11) | ENSP00000264692.5:p.Asp520Tyr | |
| ENST00000403665.6:c.1720G>T (F11) | ENSP00000384957.2:p.Asp574Tyr | |
| ENST00000503841.1:n.239G>T (F11) | ||
| NM_000128.3:c.1720G>T , LRG_583t1:c.1720G>T (F11) | NP_000119.1:p.Asp574Tyr | |
| NR_033900.1:n.1038C>A (F11-AS1) | ||
| XM_005262821.2:c.1723G>T (F11) | XP_005262878.1:p.Asp575Tyr | |
| XM_005262822.2:c.1627G>T (F11) | XP_005262879.1:p.Asp543Tyr | |
| XM_005262823.2:c.1453G>T (F11) | XP_005262880.1:p.Asp485Tyr | |
| XM_006714137.1:c.1675G>T (F11) | XP_006714200.1:p.Asp559Tyr | |
| XM_005262821.4:c.1723G>T (F11) | XP_005262878.1:p.Asp575Tyr | |
| XM_005262822.4:c.1627G>T (F11) | XP_005262879.1:p.Asp543Tyr | |
| XM_005262823.4:c.1453G>T (F11) | XP_005262880.1:p.Asp485Tyr | |
| XM_006714137.3:c.1675G>T (F11) | XP_006714200.1:p.Asp559Tyr | |
| NM_000128.4:c.1720G>T (F11) MANE Select | NP_000119.1:p.Asp574Tyr |