Linked Data
ClinVar Variation Id:
287825
dbSNP Id:
rs200584854
ExAC:
5:90077317 A / G
gnomAD v2:
5-90077317-A-G
gnomAD v3:
5-90781500-A-G
gnomAD v4:
5-90781500-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90781500A>G , CM000667.2:g.90781500A>G | GRCh38 |
| NC_000005.9:g.90077317A>G , CM000667.1:g.90077317A>G | GRCh37 |
| NC_000005.8:g.90113073A>G | NCBI36 |
| NG_007083.1:g.227701A>G | |
| NG_007083.2:g.257157A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.13153A>G MANE Select | ENSP00000384582.2:p.Ile4385Val | |
| ENST00000425867.3:c.2107A>G | ENSP00000392618.3:p.Ile703Val | |
| ENST00000638510.1:n.420A>G | ||
| ENST00000639431.1:c.265+105291A>G | ENSP00000491057.1:n.265+105291A>G | |
| ENST00000405460.6:c.13153A>G | ENSP00000384582.2:p.Ile4385Val | |
| ENST00000425867.2:c.136A>G | ENSP00000392618.2:p.Ile46Val | |
| NM_032119.3:c.13153A>G | NP_115495.3:p.Ile4385Val | |
| NR_003149.1:n.13166A>G | ||
| XM_011543675.1:c.13150A>G | XP_011541977.1:p.Ile4384Val | |
| XM_011543676.1:c.13072A>G | XP_011541978.1:p.Ile4358Val | |
| XM_011543677.1:c.10456A>G | XP_011541979.1:p.Ile3486Val | |
| XM_011543678.1:c.13153A>G | XP_011541980.1:p.Ile4385Val | |
| NM_032119.4:c.13153A>G MANE Select | NP_115495.3:p.Ile4385Val | |
| XM_017009963.2:c.13174A>G | XP_016865452.1:p.Ile4392Val | |
| XM_017009964.2:c.13171A>G | XP_016865453.1:p.Ile4391Val | |
| XM_017009965.1:c.13171A>G | XP_016865454.1:p.Ile4391Val | |
| XM_017009966.2:c.13093A>G | XP_016865455.1:p.Ile4365Val | |
| XM_017009967.1:c.13078A>G | XP_016865456.1:p.Ile4360Val | |
| XM_017009968.2:c.13174A>G | XP_016865457.1:p.Ile4392Val | |
| XM_017009969.2:c.13174A>G | XP_016865458.1:p.Ile4392Val | |
| XM_017009970.2:c.13174A>G | XP_016865459.1:p.Ile4392Val | |
| XM_017009971.2:c.13174A>G | XP_016865460.1:p.Ile4392Val | |
| XM_017009972.1:c.6292A>G | XP_016865461.1:p.Ile2098Val | |
| XM_017009973.1:c.6271A>G | XP_016865462.1:p.Ile2091Val | |
| NR_003149.2:n.13169A>G |