Linked Data
ClinVar Variation Id:
1050220
ClinVar RCV Id:
RCV001357306
dbSNP Id:
rs148054334
ExAC:
4:187209748 G / C
gnomAD v2:
4-187209748-G-C
gnomAD v3:
4-186288594-G-C
gnomAD v4:
4-186288594-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288594G>C , CM000666.2:g.186288594G>C | GRCh38 |
| NC_000004.11:g.187209748G>C , CM000666.1:g.187209748G>C | GRCh37 |
| NC_000004.10:g.187446742G>C | NCBI36 |
| NG_008051.1:g.27631G>C , LRG_583:g.27631G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1858G>C (F11) MANE Select | ENSP00000384957.2:p.Glu620Gln | |
| ENST00000264691.4:c.458G>C (F11) | ||
| ENST00000264692.8:c.1696G>C (F11) | ENSP00000264692.5:p.Glu566Gln | |
| ENST00000403665.6:c.1858G>C (F11) | ENSP00000384957.2:p.Glu620Gln | |
| ENST00000503841.1:n.377G>C (F11) | ||
| NM_000128.3:c.1858G>C , LRG_583t1:c.1858G>C (F11) | NP_000119.1:p.Glu620Gln | |
| NR_033900.1:n.900C>G (F11-AS1) | ||
| XM_005262821.2:c.1861G>C (F11) | XP_005262878.1:p.Glu621Gln | |
| XM_005262822.2:c.1765G>C (F11) | XP_005262879.1:p.Glu589Gln | |
| XM_005262823.2:c.1591G>C (F11) | XP_005262880.1:p.Glu531Gln | |
| XM_006714137.1:c.1813G>C (F11) | XP_006714200.1:p.Glu605Gln | |
| XM_005262821.4:c.1861G>C (F11) | XP_005262878.1:p.Glu621Gln | |
| XM_005262822.4:c.1765G>C (F11) | XP_005262879.1:p.Glu589Gln | |
| XM_005262823.4:c.1591G>C (F11) | XP_005262880.1:p.Glu531Gln | |
| XM_006714137.3:c.1813G>C (F11) | XP_006714200.1:p.Glu605Gln | |
| NM_000128.4:c.1858G>C (F11) MANE Select | NP_000119.1:p.Glu620Gln |