Linked Data
ClinVar Variation Id:
179159
dbSNP Id:
rs200512504
ExAC:
5:89985746 A / G
gnomAD v2:
5-89985746-A-G
gnomAD v3:
5-90689929-A-G
gnomAD v4:
5-90689929-A-G
COSMIC:
COSM3140654
PubMed:
PMID:23767834
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90689929A>G , CM000667.2:g.90689929A>G | GRCh38 |
| NC_000005.9:g.89985746A>G , CM000667.1:g.89985746A>G | GRCh37 |
| NC_000005.8:g.90021502A>G | NCBI36 |
| NG_007083.1:g.136130A>G | |
| NG_007083.2:g.165586A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.6559A>G MANE Select | ENSP00000384582.2:p.Ile2187Val | |
| ENST00000639431.1:c.265+13720A>G | ENSP00000491057.1:n.265+13720A>G | |
| ENST00000639473.1:n.2018A>G | ||
| ENST00000640012.1:c.449A>G | ||
| ENST00000640403.1:c.3850A>G | ENSP00000492531.1:p.Ile1284Val | |
| ENST00000640779.1:c.1371A>G | ||
| ENST00000405460.6:c.6559A>G | ENSP00000384582.2:p.Ile2187Val | |
| NM_032119.3:c.6559A>G | NP_115495.3:p.Ile2187Val | |
| NR_003149.1:n.6655A>G | ||
| XM_011543675.1:c.6556A>G | XP_011541977.1:p.Ile2186Val | |
| XM_011543676.1:c.6478A>G | XP_011541978.1:p.Ile2160Val | |
| XM_011543677.1:c.3862A>G | XP_011541979.1:p.Ile1288Val | |
| XM_011543678.1:c.6559A>G | XP_011541980.1:p.Ile2187Val | |
| XM_011543679.1:c.6559A>G | XP_011541981.1:p.Ile2187Val | |
| NM_032119.4:c.6559A>G MANE Select | NP_115495.3:p.Ile2187Val | |
| XM_017009963.2:c.6559A>G | XP_016865452.1:p.Ile2187Val | |
| XM_017009964.2:c.6556A>G | XP_016865453.1:p.Ile2186Val | |
| XM_017009965.1:c.6556A>G | XP_016865454.1:p.Ile2186Val | |
| XM_017009966.2:c.6478A>G | XP_016865455.1:p.Ile2160Val | |
| XM_017009967.1:c.6463A>G | XP_016865456.1:p.Ile2155Val | |
| XM_017009968.2:c.6559A>G | XP_016865457.1:p.Ile2187Val | |
| XM_017009969.2:c.6559A>G | XP_016865458.1:p.Ile2187Val | |
| XM_017009970.2:c.6559A>G | XP_016865459.1:p.Ile2187Val | |
| XM_017009971.2:c.6559A>G | XP_016865460.1:p.Ile2187Val | |
| XM_017009972.1:c.-241A>G | XP_016865461.1:n.-241A>G | |
| XM_017009973.1:c.-241A>G | XP_016865462.1:n.-241A>G | |
| XM_017009974.2:c.6559A>G | XP_016865463.1:p.Ile2187Val | |
| NR_003149.2:n.6658A>G |