Linked Data
ClinVar Variation Id:
2802034
ClinVar RCV Id:
RCV003676459
dbSNP Id:
rs764170950
ExAC:
5:90012406 A / G
gnomAD v2:
5-90012406-A-G
gnomAD v3:
5-90716589-A-G
gnomAD v4:
5-90716589-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90716589A>G , CM000667.2:g.90716589A>G | GRCh38 |
| NC_000005.9:g.90012406A>G , CM000667.1:g.90012406A>G | GRCh37 |
| NC_000005.8:g.90048162A>G | NCBI36 |
| NG_007083.1:g.162790A>G | |
| NG_007083.2:g.192246A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.9307A>G MANE Select | ENSP00000384582.2:p.Ile3103Val | |
| ENST00000639431.1:c.265+40380A>G | ENSP00000491057.1:n.265+40380A>G | |
| ENST00000639473.1:n.4766A>G | ||
| ENST00000640012.1:c.3114A>G | ||
| ENST00000640374.1:n.2451A>G | ||
| ENST00000640779.1:c.4036A>G | ||
| ENST00000405460.6:c.9307A>G | ENSP00000384582.2:p.Ile3103Val | |
| ENST00000509621.1:c.2004A>G | ||
| NM_032119.3:c.9307A>G | NP_115495.3:p.Ile3103Val | |
| NR_003149.1:n.9320A>G | ||
| XM_011543675.1:c.9304A>G | XP_011541977.1:p.Ile3102Val | |
| XM_011543676.1:c.9226A>G | XP_011541978.1:p.Ile3076Val | |
| XM_011543677.1:c.6610A>G | XP_011541979.1:p.Ile2204Val | |
| XM_011543678.1:c.9307A>G | XP_011541980.1:p.Ile3103Val | |
| XM_011543679.1:c.9307A>G | XP_011541981.1:p.Ile3103Val | |
| XR_948560.1:n.272-780T>C | ||
| NM_032119.4:c.9307A>G MANE Select | NP_115495.3:p.Ile3103Val | |
| XM_017009963.2:c.9328A>G | XP_016865452.1:p.Ile3110Val | |
| XM_017009964.2:c.9325A>G | XP_016865453.1:p.Ile3109Val | |
| XM_017009965.1:c.9325A>G | XP_016865454.1:p.Ile3109Val | |
| XM_017009966.2:c.9247A>G | XP_016865455.1:p.Ile3083Val | |
| XM_017009967.1:c.9232A>G | XP_016865456.1:p.Ile3078Val | |
| XM_017009968.2:c.9328A>G | XP_016865457.1:p.Ile3110Val | |
| XM_017009969.2:c.9328A>G | XP_016865458.1:p.Ile3110Val | |
| XM_017009970.2:c.9328A>G | XP_016865459.1:p.Ile3110Val | |
| XM_017009971.2:c.9328A>G | XP_016865460.1:p.Ile3110Val | |
| XM_017009972.1:c.2446A>G | XP_016865461.1:p.Ile816Val | |
| XM_017009973.1:c.2425A>G | XP_016865462.1:p.Ile809Val | |
| XM_017009974.2:c.9328A>G | XP_016865463.1:p.Ile3110Val | |
| XR_001742802.1:n.2523-780T>C | ||
| NR_003149.2:n.9323A>G |