Linked Data
ClinVar Variation Id:
255179
dbSNP Id:
rs5976
ExAC:
4:187209729 G / A
gnomAD v2:
4-187209729-G-A
gnomAD v3:
4-186288575-G-A
gnomAD v4:
4-186288575-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288575G>A , CM000666.2:g.186288575G>A | GRCh38 |
| NC_000004.11:g.187209729G>A , CM000666.1:g.187209729G>A | GRCh37 |
| NC_000004.10:g.187446723G>A | NCBI36 |
| NG_008051.1:g.27612G>A , LRG_583:g.27612G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1839G>A (F11) MANE Select | ENSP00000384957.2:p.Glu613= | |
| ENST00000264691.4:c.439G>A (F11) | ||
| ENST00000264692.8:c.1677G>A (F11) | ENSP00000264692.5:p.Glu559= | |
| ENST00000403665.6:c.1839G>A (F11) | ENSP00000384957.2:p.Glu613= | |
| ENST00000503841.1:n.358G>A (F11) | ||
| NM_000128.3:c.1839G>A , LRG_583t1:c.1839G>A (F11) | NP_000119.1:p.Glu613= | |
| NR_033900.1:n.919C>T (F11-AS1) | ||
| XM_005262821.2:c.1842G>A (F11) | XP_005262878.1:p.Glu614= | |
| XM_005262822.2:c.1746G>A (F11) | XP_005262879.1:p.Glu582= | |
| XM_005262823.2:c.1572G>A (F11) | XP_005262880.1:p.Glu524= | |
| XM_006714137.1:c.1794G>A (F11) | XP_006714200.1:p.Glu598= | |
| XM_005262821.4:c.1842G>A (F11) | XP_005262878.1:p.Glu614= | |
| XM_005262822.4:c.1746G>A (F11) | XP_005262879.1:p.Glu582= | |
| XM_005262823.4:c.1572G>A (F11) | XP_005262880.1:p.Glu524= | |
| XM_006714137.3:c.1794G>A (F11) | XP_006714200.1:p.Glu598= | |
| NM_000128.4:c.1839G>A (F11) MANE Select | NP_000119.1:p.Glu613= |