Linked Data
ClinVar Variation Id:
198109
dbSNP Id:
rs2275260
ExAC:
9:131285955 A / G
gnomAD v2:
9-131285955-A-G
gnomAD v3:
9-128523676-A-G
gnomAD v4:
9-128523676-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128523676A>G , CM000671.2:g.128523676A>G | GRCh38 |
| NC_000009.11:g.131285955A>G , CM000671.1:g.131285955A>G | GRCh37 |
| NC_000009.10:g.130325776A>G | NCBI36 |
| NG_012073.1:g.23985A>G , LRG_484:g.23985A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494417.2:n.831A>G | ||
| ENST00000683044.1:c.727A>G | ENSP00000507095.1:p.Ile243Val | |
| ENST00000683288.1:c.*726A>G | ENSP00000507477.1:n.*726A>G | |
| ENST00000683331.1:n.674A>G | ||
| ENST00000683748.1:c.727A>G | ENSP00000507377.1:p.Ile243Val | |
| ENST00000683905.1:c.727A>G | ENSP00000506960.1:p.Ile243Val | |
| ENST00000684139.1:c.433-1516A>G | ENSP00000507295.1:n.433-1516A>G | |
| ENST00000684210.1:n.445A>G | ||
| ENST00000684314.1:c.727A>G | ENSP00000507700.1:p.Ile243Val | |
| ENST00000684331.1:c.727A>G | ENSP00000507431.1:p.Ile243Val | |
| ENST00000684646.1:c.727A>G | ENSP00000507723.1:p.Ile243Val | |
| ENST00000309971.9:c.727A>G MANE Select | ENSP00000308622.5:p.Ile243Val | |
| ENST00000309971.8:c.727A>G | ENSP00000308622.4:p.Ile243Val | |
| ENST00000372770.4:c.727A>G | ENSP00000361856.4:p.Ile243Val | |
| ENST00000494417.1:n.29A>G | ||
| NM_001003722.1:c.727A>G , LRG_484t1:c.727A>G | NP_001003722.1:p.Ile243Val | |
| NM_001499.2:c.727A>G , LRG_484t2:c.727A>G | NP_001490.1:p.Ile243Val | |
| XM_006717059.2:c.736A>G | XP_006717122.1:p.Ile246Val | |
| XM_006717060.2:c.736A>G | XP_006717123.1:p.Ile246Val | |
| XM_011518549.1:c.736A>G | XP_011516851.1:p.Ile246Val | |
| XM_011518550.1:c.736A>G | XP_011516852.1:p.Ile246Val | |
| XM_011518551.1:c.727A>G | XP_011516853.1:p.Ile243Val | |
| XM_011518552.1:c.-19A>G | XP_011516854.1:n.-19A>G | |
| XM_006717059.3:c.736A>G | XP_006717122.1:p.Ile246Val | |
| XM_006717060.3:c.736A>G | XP_006717123.1:p.Ile246Val | |
| XM_011518551.2:c.727A>G | XP_011516853.1:p.Ile243Val | |
| XM_024447519.1:c.736A>G | XP_024303287.1:p.Ile246Val | |
| NM_001003722.2:c.727A>G MANE Select | NP_001003722.1:p.Ile243Val |