Linked Data
dbSNP Id:
rs754378630
ExAC:
4:187209677 G / A
gnomAD v2:
4-187209677-G-A
gnomAD v3:
4-186288523-G-A
gnomAD v4:
4-186288523-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288523G>A , CM000666.2:g.186288523G>A | GRCh38 |
| NC_000004.11:g.187209677G>A , CM000666.1:g.187209677G>A | GRCh37 |
| NC_000004.10:g.187446671G>A | NCBI36 |
| NG_008051.1:g.27560G>A , LRG_583:g.27560G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1787G>A (F11) MANE Select | ENSP00000384957.2:p.Gly596Asp | |
| ENST00000264691.4:c.387G>A (F11) | ||
| ENST00000264692.8:c.1625G>A (F11) | ENSP00000264692.5:p.Gly542Asp | |
| ENST00000403665.6:c.1787G>A (F11) | ENSP00000384957.2:p.Gly596Asp | |
| ENST00000503841.1:n.306G>A (F11) | ||
| NM_000128.3:c.1787G>A , LRG_583t1:c.1787G>A (F11) | NP_000119.1:p.Gly596Asp | |
| NR_033900.1:n.971C>T (F11-AS1) | ||
| XM_005262821.2:c.1790G>A (F11) | XP_005262878.1:p.Gly597Asp | |
| XM_005262822.2:c.1694G>A (F11) | XP_005262879.1:p.Gly565Asp | |
| XM_005262823.2:c.1520G>A (F11) | XP_005262880.1:p.Gly507Asp | |
| XM_006714137.1:c.1742G>A (F11) | XP_006714200.1:p.Gly581Asp | |
| XM_005262821.4:c.1790G>A (F11) | XP_005262878.1:p.Gly597Asp | |
| XM_005262822.4:c.1694G>A (F11) | XP_005262879.1:p.Gly565Asp | |
| XM_005262823.4:c.1520G>A (F11) | XP_005262880.1:p.Gly507Asp | |
| XM_006714137.3:c.1742G>A (F11) | XP_006714200.1:p.Gly581Asp | |
| NM_000128.4:c.1787G>A (F11) MANE Select | NP_000119.1:p.Gly596Asp |