Linked Data
ClinVar Variation Id:
1558947
ClinVar RCV Id:
RCV002200350
dbSNP Id:
rs5971
MyVariant Identifiers:
chr4:g.187209702G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288548G>C , CM000666.2:g.186288548G>C | GRCh38 |
| NC_000004.11:g.187209702G>C , CM000666.1:g.187209702G>C | GRCh37 |
| NC_000004.10:g.187446696G>C | NCBI36 |
| NG_008051.1:g.27585G>C , LRG_583:g.27585G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1812G>C (F11) MANE Select | ENSP00000384957.2:p.Arg604= | |
| ENST00000264691.4:c.412G>C (F11) | ||
| ENST00000264692.8:c.1650G>C (F11) | ENSP00000264692.5:p.Arg550= | |
| ENST00000403665.6:c.1812G>C (F11) | ENSP00000384957.2:p.Arg604= | |
| ENST00000503841.1:n.331G>C (F11) | ||
| NM_000128.3:c.1812G>C , LRG_583t1:c.1812G>C (F11) | NP_000119.1:p.Arg604= | |
| NR_033900.1:n.946C>G (F11-AS1) | ||
| XM_005262821.2:c.1815G>C (F11) | XP_005262878.1:p.Arg605= | |
| XM_005262822.2:c.1719G>C (F11) | XP_005262879.1:p.Arg573= | |
| XM_005262823.2:c.1545G>C (F11) | XP_005262880.1:p.Arg515= | |
| XM_006714137.1:c.1767G>C (F11) | XP_006714200.1:p.Arg589= | |
| XM_005262821.4:c.1815G>C (F11) | XP_005262878.1:p.Arg605= | |
| XM_005262822.4:c.1719G>C (F11) | XP_005262879.1:p.Arg573= | |
| XM_005262823.4:c.1545G>C (F11) | XP_005262880.1:p.Arg515= | |
| XM_006714137.3:c.1767G>C (F11) | XP_006714200.1:p.Arg589= | |
| NM_000128.4:c.1812G>C (F11) MANE Select | NP_000119.1:p.Arg604= |