Linked Data
ClinVar Variation Id:
195203
dbSNP Id:
rs113994048
ExAC:
3:183854522 A / T
gnomAD v2:
3-183854522-A-T
gnomAD v3:
3-184136734-A-T
gnomAD v4:
3-184136734-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184136734A>T , CM000665.2:g.184136734A>T | GRCh38 |
| NC_000003.11:g.183854522A>T , CM000665.1:g.183854522A>T | GRCh37 |
| NC_000003.10:g.185337216A>T | NCBI36 |
| NG_015826.1:g.6713A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000432569.2:c.318A>T | ENSP00000414775.1:p.Leu106Phe | |
| ENST00000465218.3:n.341A>T | ||
| ENST00000468748.7:n.301A>T | ||
| ENST00000471832.2:c.*312A>T | ENSP00000497786.1:n.*312A>T | |
| ENST00000484154.2:n.56A>T | ||
| ENST00000491008.6:n.183A>T | ||
| ENST00000492226.2:n.315A>T | ||
| ENST00000492773.6:c.50A>T | ||
| ENST00000647636.1:c.318A>T | ENSP00000497505.1:p.Leu106Phe | |
| ENST00000647909.1:c.318A>T | ENSP00000498164.1:p.Leu106Phe | |
| ENST00000648145.1:c.86A>T | ||
| ENST00000648189.1:c.68A>T | ||
| ENST00000648256.1:c.267A>T | ENSP00000497356.1:p.Leu89Phe | |
| ENST00000648314.1:c.318A>T | ENSP00000496920.1:p.Leu106Phe | |
| ENST00000648599.1:c.318A>T | ENSP00000497159.1:p.Leu106Phe | |
| ENST00000648630.1:c.312A>T | ENSP00000497887.1:p.Leu104Phe | |
| ENST00000648682.1:c.318A>T | ENSP00000498185.1:p.Leu106Phe | |
| ENST00000648882.1:c.*144A>T | ENSP00000497603.1:n.*144A>T | |
| ENST00000648890.1:c.318A>T | ENSP00000497503.1:p.Leu106Phe | |
| ENST00000648915.2:c.318A>T MANE Select | ENSP00000497160.1:p.Leu106Phe | |
| ENST00000649545.1:c.52A>T | ||
| ENST00000649688.1:c.318A>T | ENSP00000497097.1:p.Leu106Phe | |
| ENST00000649814.1:n.367A>T | ||
| ENST00000650244.1:c.463A>T | ENSP00000497227.1:n.463A>T | |
| ENST00000650270.1:c.185A>T | ||
| ENST00000273783.7:c.318A>T | ENSP00000273783.3:p.Leu106Phe | |
| ENST00000432569.1:c.318A>T | ENSP00000414775.1:p.Leu106Phe | |
| ENST00000432982.5:c.245+59A>T | ||
| ENST00000444495.1:c.318A>T | ENSP00000409142.1:p.Leu106Phe | |
| ENST00000471832.1:n.249A>T | ||
| ENST00000481054.5:n.319A>T | ||
| ENST00000491144.5:n.666A>T | ||
| ENST00000498831.1:n.174A>T | ||
| NM_003907.2:c.318A>T | NP_003898.2:p.Leu106Phe | |
| XR_924208.1:n.1269A>T | ||
| NM_003907.3:c.318A>T MANE Select | NP_003898.2:p.Leu106Phe | |
| XM_011513266.3:c.-584A>T | XP_011511568.1:n.-584A>T | |
| XR_001740352.2:n.681A>T | ||
| XR_001740353.2:n.681A>T | ||
| XR_924208.2:n.681A>T |