Linked Data
ClinVar Variation Id:
456344
dbSNP Id:
rs145129959
ExAC:
3:10089670 A / G
gnomAD v2:
3-10089670-A-G
gnomAD v3:
3-10047986-A-G
gnomAD v4:
3-10047986-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10047986A>G , CM000665.2:g.10047986A>G | GRCh38 |
| NC_000003.11:g.10089670A>G , CM000665.1:g.10089670A>G | GRCh37 |
| NC_000003.10:g.10064670A>G | NCBI36 |
| NG_007311.1:g.26558A>G , LRG_306:g.26558A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681997.1:n.432A>G | ||
| ENST00000682647.1:c.*1268A>G | ENSP00000506736.1:n.*1268A>G | |
| ENST00000683263.1:n.347A>G | ||
| ENST00000675286.1:c.1348A>G MANE Select | ENSP00000502379.1:p.Ile450Val | |
| ENST00000676013.1:c.1348A>G | ENSP00000501999.1:p.Ile450Val | |
| ENST00000287647.7:c.1348A>G | ENSP00000287647.3:p.Ile450Val | |
| ENST00000383807.5:c.1348A>G | ENSP00000373318.1:p.Ile450Val | |
| ENST00000419585.5:c.1348A>G | ENSP00000398754.1:p.Ile450Val | |
| ENST00000464934.1:n.367A>G | ||
| ENST00000483276.1:n.432A>G | ||
| NM_001018115.1:c.1348A>G , LRG_306t1:c.1348A>G | NP_001018125.1:p.Ile450Val | |
| NM_033084.3:c.1348A>G , LRG_306t2:c.1348A>G | NP_149075.2:p.Ile450Val | |
| XM_005264946.2:c.1348A>G | XP_005265003.1:p.Ile450Val | |
| XM_006713021.2:c.1348A>G | XP_006713084.1:p.Ile450Val | |
| XM_006713023.2:c.1348A>G | XP_006713086.1:p.Ile450Val | |
| XM_006713024.2:c.1348A>G | XP_006713087.1:p.Ile450Val | |
| XM_011533479.1:c.1348A>G | XP_011531781.1:p.Ile450Val | |
| XM_011533480.1:c.199A>G | XP_011531782.1:p.Ile67Val | |
| XR_940391.1:n.1468A>G | ||
| NM_001018115.2:c.1348A>G | NP_001018125.1:p.Ile450Val | |
| NM_001319984.1:c.1348A>G | NP_001306913.1:p.Ile450Val | |
| NM_033084.4:c.1348A>G | NP_149075.2:p.Ile450Val | |
| NM_001018115.3:c.1348A>G MANE Select | NP_001018125.1:p.Ile450Val | |
| NM_001319984.2:c.1348A>G | NP_001306913.1:p.Ile450Val | |
| NM_001374253.1:c.1348A>G | NP_001361182.1:p.Ile450Val | |
| NM_001374254.1:c.1348A>G | NP_001361183.1:p.Ile450Val | |
| NM_033084.6:c.1348A>G | NP_149075.2:p.Ile450Val |