Linked Data
ClinVar Variation Id:
2903512
ClinVar RCV Id:
RCV003726761
dbSNP Id:
rs751802986
ExAC:
4:187209590 G / C
gnomAD v2:
4-187209590-G-C
gnomAD v3:
4-186288436-G-C
gnomAD v4:
4-186288436-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288436G>C , CM000666.2:g.186288436G>C | GRCh38 |
| NC_000004.11:g.187209590G>C , CM000666.1:g.187209590G>C | GRCh37 |
| NC_000004.10:g.187446584G>C | NCBI36 |
| NG_008051.1:g.27473G>C , LRG_583:g.27473G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1717-17G>C (F11) MANE Select | ENSP00000384957.2:n.1717-17G>C | |
| ENST00000264691.4:c.317-17G>C (F11) | ||
| ENST00000264692.8:c.1555-17G>C (F11) | ENSP00000264692.5:n.1555-17G>C | |
| ENST00000403665.6:c.1717-17G>C (F11) | ENSP00000384957.2:n.1717-17G>C | |
| ENST00000503841.1:n.236-17G>C (F11) | ||
| NM_000128.3:c.1717-17G>C , LRG_583t1:c.1717-17G>C (F11) | NP_000119.1:n.1717-17G>C | |
| NR_033900.1:n.1058C>G (F11-AS1) | ||
| XM_005262821.2:c.1720-17G>C (F11) | XP_005262878.1:n.1720-17G>C | |
| XM_005262822.2:c.1624-17G>C (F11) | XP_005262879.1:n.1624-17G>C | |
| XM_005262823.2:c.1450-17G>C (F11) | XP_005262880.1:n.1450-17G>C | |
| XM_006714137.1:c.1672-17G>C (F11) | XP_006714200.1:n.1672-17G>C | |
| XM_005262821.4:c.1720-17G>C (F11) | XP_005262878.1:n.1720-17G>C | |
| XM_005262822.4:c.1624-17G>C (F11) | XP_005262879.1:n.1624-17G>C | |
| XM_005262823.4:c.1450-17G>C (F11) | XP_005262880.1:n.1450-17G>C | |
| XM_006714137.3:c.1672-17G>C (F11) | XP_006714200.1:n.1672-17G>C | |
| NM_000128.4:c.1717-17G>C (F11) MANE Select | NP_000119.1:n.1717-17G>C |