Linked Data
ClinVar Variation Id:
1146218
ClinVar RCV Id:
RCV001485381
dbSNP Id:
rs1427203317
gnomAD v2:
4-187209678-C-T
gnomAD v4:
4-186288524-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288524C>T , CM000666.2:g.186288524C>T | GRCh38 |
| NC_000004.11:g.187209678C>T , CM000666.1:g.187209678C>T | GRCh37 |
| NC_000004.10:g.187446672C>T | NCBI36 |
| NG_008051.1:g.27561C>T , LRG_583:g.27561C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1788C>T (F11) MANE Select | ENSP00000384957.2:p.Gly596= | |
| ENST00000264691.4:c.388C>T (F11) | ||
| ENST00000264692.8:c.1626C>T (F11) | ENSP00000264692.5:p.Gly542= | |
| ENST00000403665.6:c.1788C>T (F11) | ENSP00000384957.2:p.Gly596= | |
| ENST00000503841.1:n.307C>T (F11) | ||
| NM_000128.3:c.1788C>T , LRG_583t1:c.1788C>T (F11) | NP_000119.1:p.Gly596= | |
| NR_033900.1:n.970G>A (F11-AS1) | ||
| XM_005262821.2:c.1791C>T (F11) | XP_005262878.1:p.Gly597= | |
| XM_005262822.2:c.1695C>T (F11) | XP_005262879.1:p.Gly565= | |
| XM_005262823.2:c.1521C>T (F11) | XP_005262880.1:p.Gly507= | |
| XM_006714137.1:c.1743C>T (F11) | XP_006714200.1:p.Gly581= | |
| XM_005262821.4:c.1791C>T (F11) | XP_005262878.1:p.Gly597= | |
| XM_005262822.4:c.1695C>T (F11) | XP_005262879.1:p.Gly565= | |
| XM_005262823.4:c.1521C>T (F11) | XP_005262880.1:p.Gly507= | |
| XM_006714137.3:c.1743C>T (F11) | XP_006714200.1:p.Gly581= | |
| NM_000128.4:c.1788C>T (F11) MANE Select | NP_000119.1:p.Gly596= |