Linked Data
ClinVar Variation Id:
235646
dbSNP Id:
rs199673198
ExAC:
15:76580196 T / C
gnomAD v2:
15-76580196-T-C
gnomAD v3:
15-76287855-T-C
gnomAD v4:
15-76287855-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.76287855T>C , CM000677.2:g.76287855T>C | GRCh38 |
| NC_000015.9:g.76580196T>C , CM000677.1:g.76580196T>C | GRCh37 |
| NC_000015.8:g.74367251T>C | NCBI36 |
| NG_007077.2:g.28615A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559386.2:c.442A>G | ENSP00000452777.2:p.Ile148Val | |
| ENST00000560044.6:c.*437A>G | ENSP00000452942.1:n.*437A>G | |
| ENST00000560595.6:c.442A>G | ENSP00000453345.2:p.Ile148Val | |
| ENST00000565910.6:c.442A>G | ENSP00000458001.2:p.Ile148Val | |
| ENST00000685118.1:c.*437A>G | ENSP00000509473.1:n.*437A>G | |
| ENST00000685548.1:c.442A>G | ENSP00000510343.1:p.Ile148Val | |
| ENST00000685863.1:c.295A>G | ENSP00000509361.1:p.Ile99Val | |
| ENST00000687293.1:c.442A>G | ENSP00000509928.1:p.Ile148Val | |
| ENST00000687975.1:c.*318A>G | ENSP00000508690.1:n.*318A>G | |
| ENST00000688154.1:c.442A>G | ENSP00000510637.1:p.Ile148Val | |
| ENST00000688389.1:c.442A>G | ENSP00000510491.1:p.Ile148Val | |
| ENST00000688637.1:n.523A>G | ||
| ENST00000688908.1:c.295A>G | ENSP00000510242.1:p.Ile99Val | |
| ENST00000689730.1:c.442A>G | ENSP00000510006.1:p.Ile148Val | |
| ENST00000689739.1:n.523A>G | ||
| ENST00000690610.1:c.442A>G | ENSP00000510473.1:p.Ile148Val | |
| ENST00000691021.1:c.*437A>G | ENSP00000510805.1:n.*437A>G | |
| ENST00000691071.1:n.221A>G | ||
| ENST00000691695.1:c.295A>G | ENSP00000509402.1:p.Ile99Val | |
| ENST00000692691.1:c.442A>G | ENSP00000508808.1:p.Ile148Val | |
| ENST00000693064.1:c.*417A>G | ENSP00000510720.1:n.*417A>G | |
| ENST00000557943.6:c.442A>G MANE Select | ENSP00000452762.1:p.Ile148Val | |
| ENST00000267950.12:c.*165A>G | ENSP00000267950.8:n.*165A>G | |
| ENST00000433983.6:c.295A>G | ENSP00000399273.2:p.Ile99Val | |
| ENST00000557943.5:c.442A>G | ENSP00000452762.1:p.Ile148Val | |
| ENST00000559075.5:n.466A>G | ||
| ENST00000559386.1:c.442A>G | ENSP00000452777.1:p.Ile148Val | |
| ENST00000559602.5:c.130A>G | ENSP00000452659.1:p.Ile44Val | |
| ENST00000559758.5:n.283A>G | ||
| ENST00000559973.5:c.152A>G | ||
| ENST00000560044.5:c.*437A>G | ENSP00000452942.1:n.*437A>G | |
| ENST00000560309.5:c.*355A>G | ENSP00000453753.1:n.*355A>G | |
| ENST00000560345.5:c.254A>G | ||
| ENST00000560595.5:c.442A>G | ENSP00000453345.1:p.Ile148Val | |
| ENST00000560726.5:c.-339A>G | ENSP00000453098.1:n.-339A>G | |
| ENST00000560899.5:c.-339A>G | ENSP00000453422.1:n.-339A>G | |
| ENST00000561092.1:n.374A>G | ||
| NM_000126.3:c.442A>G | NP_000117.1:p.Ile148Val | |
| NM_001127716.1:c.295A>G | NP_001121188.1:p.Ile99Val | |
| XR_931766.1:n.497A>G | ||
| XR_931766.3:n.523A>G | ||
| NM_000126.4:c.442A>G MANE Select | NP_000117.1:p.Ile148Val | |
| NM_001127716.2:c.295A>G | NP_001121188.1:p.Ile99Val |