Linked Data
ClinVar Variation Id:
11904
ClinVar RCV Id:
RCV000012679
dbSNP Id:
rs121965072
PubMed:
PMID:15026311
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288496G>C , CM000666.2:g.186288496G>C | GRCh38 |
| NC_000004.11:g.187209650G>C , CM000666.1:g.187209650G>C | GRCh37 |
| NC_000004.10:g.187446644G>C | NCBI36 |
| NG_008051.1:g.27533G>C , LRG_583:g.27533G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1760G>C (F11) MANE Select | ENSP00000384957.2:p.Trp587Ser | |
| ENST00000264691.4:c.360G>C (F11) | ||
| ENST00000264692.8:c.1598G>C (F11) | ENSP00000264692.5:p.Trp533Ser | |
| ENST00000403665.6:c.1760G>C (F11) | ENSP00000384957.2:p.Trp587Ser | |
| ENST00000503841.1:n.279G>C (F11) | ||
| NM_000128.3:c.1760G>C , LRG_583t1:c.1760G>C (F11) | NP_000119.1:p.Trp587Ser | |
| NR_033900.1:n.998C>G (F11-AS1) | ||
| XM_005262821.2:c.1763G>C (F11) | XP_005262878.1:p.Trp588Ser | |
| XM_005262822.2:c.1667G>C (F11) | XP_005262879.1:p.Trp556Ser | |
| XM_005262823.2:c.1493G>C (F11) | XP_005262880.1:p.Trp498Ser | |
| XM_006714137.1:c.1715G>C (F11) | XP_006714200.1:p.Trp572Ser | |
| XM_005262821.4:c.1763G>C (F11) | XP_005262878.1:p.Trp588Ser | |
| XM_005262822.4:c.1667G>C (F11) | XP_005262879.1:p.Trp556Ser | |
| XM_005262823.4:c.1493G>C (F11) | XP_005262880.1:p.Trp498Ser | |
| XM_006714137.3:c.1715G>C (F11) | XP_006714200.1:p.Trp572Ser | |
| NM_000128.4:c.1760G>C (F11) MANE Select | NP_000119.1:p.Trp587Ser |