Linked Data
ClinVar Variation Id:
348390
ClinVar RCV Id:
RCV000370993
dbSNP Id:
rs558079340
gnomAD v2:
4-187210590-A-G
gnomAD v3:
4-186289436-A-G
gnomAD v4:
4-186289436-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186289436A>G , CM000666.2:g.186289436A>G | GRCh38 |
| NC_000004.11:g.187210590A>G , CM000666.1:g.187210590A>G | GRCh37 |
| NC_000004.10:g.187447584A>G | NCBI36 |
| NG_008051.1:g.28473A>G , LRG_583:g.28473A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.*822A>G (F11) MANE Select | ENSP00000384957.2:n.*822A>G | |
| NM_000128.3:c.*822A>G , LRG_583t1:c.*822A>G (F11) | NP_000119.1:n.*822A>G | |
| NR_033900.1:n.492-434T>C (F11-AS1) | ||
| XM_005262821.2:c.*822A>G (F11) | XP_005262878.1:n.*822A>G | |
| XM_005262822.2:c.*822A>G (F11) | XP_005262879.1:n.*822A>G | |
| XM_005262823.2:c.*822A>G (F11) | XP_005262880.1:n.*822A>G | |
| XM_006714137.1:c.*822A>G (F11) | XP_006714200.1:n.*822A>G | |
| XM_005262821.4:c.*822A>G (F11) | XP_005262878.1:n.*822A>G | |
| XM_005262822.4:c.*822A>G (F11) | XP_005262879.1:n.*822A>G | |
| XM_005262823.4:c.*822A>G (F11) | XP_005262880.1:n.*822A>G | |
| XM_006714137.3:c.*822A>G (F11) | XP_006714200.1:n.*822A>G | |
| NM_000128.4:c.*822A>G (F11) MANE Select | NP_000119.1:n.*822A>G |