Linked Data
ClinVar Variation Id:
205174
dbSNP Id:
rs767164948
ExAC:
15:68500686 G / A
gnomAD v2:
15-68500686-G-A
gnomAD v3:
15-68208348-G-A
gnomAD v4:
15-68208348-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208348G>A , CM000677.2:g.68208348G>A | GRCh38 |
| NC_000015.9:g.68500686G>A , CM000677.1:g.68500686G>A | GRCh37 |
| NC_000015.8:g.66287740G>A | NCBI36 |
| NG_008764.2:g.53864C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.728C>T MANE Select | ENSP00000249806.5:p.Ala243Val | |
| ENST00000562767.2:c.84-10720C>T | ENSP00000456336.1:n.84-10720C>T | |
| ENST00000565471.6:c.269C>T | ENSP00000457384.1:p.Ala90Val | |
| ENST00000635747.1:c.*631C>T | ENSP00000490627.1:n.*631C>T | |
| ENST00000636212.1:c.*398C>T | ENSP00000489851.1:n.*398C>T | |
| ENST00000636674.1:n.1830C>T | ||
| ENST00000636964.1:n.2256C>T | ||
| ENST00000637054.1:c.198+10188C>T | ENSP00000490807.1:n.198+10188C>T | |
| ENST00000637329.1:c.697C>T | ||
| ENST00000637450.1:c.*382C>T | ENSP00000490204.1:n.*382C>T | |
| ENST00000637494.1:c.440C>T | ENSP00000490057.1:p.Ala147Val | |
| ENST00000637667.1:c.629C>T | ENSP00000489843.1:p.Ala210Val | |
| ENST00000637823.1:c.553C>T | ||
| ENST00000637888.1:c.198+10188C>T | ENSP00000490546.1:n.198+10188C>T | |
| ENST00000638076.1:c.*331C>T | ENSP00000490373.1:n.*331C>T | |
| ENST00000638144.1:n.371C>T | ||
| ENST00000646164.1:c.39-8667C>T | ||
| ENST00000249806.9:c.728C>T | ENSP00000249806.5:p.Ala243Val | |
| ENST00000538696.5:c.824C>T | ENSP00000445770.1:p.Ala275Val | |
| ENST00000562767.1:c.84-10720C>T | ENSP00000456336.1:n.84-10720C>T | |
| ENST00000564752.1:c.*112C>T | ENSP00000457822.1:n.*112C>T | |
| ENST00000565471.5:c.269C>T | ENSP00000457384.1:p.Ala90Val | |
| ENST00000566347.5:c.539C>T | ENSP00000457783.1:p.Ala180Val | |
| ENST00000567060.5:c.*126C>T | ENSP00000454818.1:n.*126C>T | |
| NM_017882.2:c.728C>T | NP_060352.1:p.Ala243Val | |
| NM_017882.3:c.728C>T MANE Select | NP_060352.1:p.Ala243Val |