Linked Data
ClinVar Variation Id:
901159
ClinVar RCV Id:
RCV001146872
dbSNP Id:
rs148610742
gnomAD v2:
4-187209943-C-T
gnomAD v3:
4-186288789-C-T
gnomAD v4:
4-186288789-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288789C>T , CM000666.2:g.186288789C>T | GRCh38 |
| NC_000004.11:g.187209943C>T , CM000666.1:g.187209943C>T | GRCh37 |
| NC_000004.10:g.187446937C>T | NCBI36 |
| NG_008051.1:g.27826C>T , LRG_583:g.27826C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.*175C>T (F11) MANE Select | ENSP00000384957.2:n.*175C>T | |
| ENST00000264691.4:c.653C>T (F11) | ||
| NM_000128.3:c.*175C>T , LRG_583t1:c.*175C>T (F11) | NP_000119.1:n.*175C>T | |
| NR_033900.1:n.705G>A (F11-AS1) | ||
| XM_005262821.2:c.*175C>T (F11) | XP_005262878.1:n.*175C>T | |
| XM_005262822.2:c.*175C>T (F11) | XP_005262879.1:n.*175C>T | |
| XM_005262823.2:c.*175C>T (F11) | XP_005262880.1:n.*175C>T | |
| XM_006714137.1:c.*175C>T (F11) | XP_006714200.1:n.*175C>T | |
| XM_005262821.4:c.*175C>T (F11) | XP_005262878.1:n.*175C>T | |
| XM_005262822.4:c.*175C>T (F11) | XP_005262879.1:n.*175C>T | |
| XM_005262823.4:c.*175C>T (F11) | XP_005262880.1:n.*175C>T | |
| XM_006714137.3:c.*175C>T (F11) | XP_006714200.1:n.*175C>T | |
| NM_000128.4:c.*175C>T (F11) MANE Select | NP_000119.1:n.*175C>T |