Linked Data
ClinVar Variation Id:
595294
dbSNP Id:
rs140319056
ExAC:
15:68500616 G / A
gnomAD v2:
15-68500616-G-A
gnomAD v3:
15-68208278-G-A
gnomAD v4:
15-68208278-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208278G>A , CM000677.2:g.68208278G>A | GRCh38 |
| NC_000015.9:g.68500616G>A , CM000677.1:g.68500616G>A | GRCh37 |
| NC_000015.8:g.66287670G>A | NCBI36 |
| NG_008764.2:g.53934C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.798C>T MANE Select | ENSP00000249806.5:p.Phe266= | |
| ENST00000562767.2:c.84-10650C>T | ENSP00000456336.1:n.84-10650C>T | |
| ENST00000565471.6:c.339C>T | ENSP00000457384.1:p.Phe113= | |
| ENST00000635747.1:c.*701C>T | ENSP00000490627.1:n.*701C>T | |
| ENST00000636212.1:c.*468C>T | ENSP00000489851.1:n.*468C>T | |
| ENST00000636674.1:n.1900C>T | ||
| ENST00000636964.1:n.2326C>T | ||
| ENST00000637054.1:c.198+10258C>T | ENSP00000490807.1:n.198+10258C>T | |
| ENST00000637329.1:c.767C>T | ||
| ENST00000637450.1:c.*452C>T | ENSP00000490204.1:n.*452C>T | |
| ENST00000637494.1:c.510C>T | ENSP00000490057.1:p.Phe170= | |
| ENST00000637667.1:c.699C>T | ENSP00000489843.1:p.Phe233= | |
| ENST00000637823.1:c.623C>T | ||
| ENST00000637888.1:c.198+10258C>T | ENSP00000490546.1:n.198+10258C>T | |
| ENST00000638076.1:c.*401C>T | ENSP00000490373.1:n.*401C>T | |
| ENST00000638144.1:n.441C>T | ||
| ENST00000646164.1:c.39-8597C>T | ||
| ENST00000249806.9:c.798C>T | ENSP00000249806.5:p.Phe266= | |
| ENST00000538696.5:c.894C>T | ENSP00000445770.1:p.Phe298= | |
| ENST00000562767.1:c.84-10650C>T | ENSP00000456336.1:n.84-10650C>T | |
| ENST00000565471.5:c.339C>T | ENSP00000457384.1:p.Phe113= | |
| ENST00000566347.5:c.609C>T | ENSP00000457783.1:p.Phe203= | |
| ENST00000567060.5:c.*196C>T | ENSP00000454818.1:n.*196C>T | |
| NM_017882.2:c.798C>T | NP_060352.1:p.Phe266= | |
| NM_017882.3:c.798C>T MANE Select | NP_060352.1:p.Phe266= |