Linked Data
ClinVar Variation Id:
373196
dbSNP Id:
rs769199442
ExAC:
15:68510953 G / A
gnomAD v2:
15-68510953-G-A
gnomAD v3:
15-68218615-G-A
gnomAD v4:
15-68218615-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68218615G>A , CM000677.2:g.68218615G>A | GRCh38 |
| NC_000015.9:g.68510953G>A , CM000677.1:g.68510953G>A | GRCh37 |
| NC_000015.8:g.66298007G>A | NCBI36 |
| NG_008764.2:g.43597C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.119C>T MANE Select | ENSP00000249806.5:p.Thr40Met | |
| ENST00000562767.2:c.83+10887C>T | ENSP00000456336.1:n.83+10887C>T | |
| ENST00000563917.2:n.41-4227C>T | ||
| ENST00000565471.6:c.84-8856C>T | ENSP00000457384.1:n.84-8856C>T | |
| ENST00000569336.2:n.28C>T | ||
| ENST00000635747.1:c.*22C>T | ENSP00000490627.1:n.*22C>T | |
| ENST00000636020.1:n.251C>T | ||
| ENST00000636212.1:c.119C>T | ENSP00000489851.1:p.Thr40Met | |
| ENST00000636314.1:c.84-4227C>T | ENSP00000490295.1:n.84-4227C>T | |
| ENST00000636876.1:c.*139C>T | ENSP00000489950.1:n.*139C>T | |
| ENST00000637054.1:c.119C>T | ENSP00000490807.1:p.Thr40Met | |
| ENST00000637223.1:c.*22C>T | ENSP00000490010.1:n.*22C>T | |
| ENST00000637329.1:c.30C>T | ||
| ENST00000637450.1:c.84-4227C>T | ENSP00000490204.1:n.84-4227C>T | |
| ENST00000637494.1:c.119C>T | ENSP00000490057.1:p.Thr40Met | |
| ENST00000637667.1:c.119C>T | ENSP00000489843.1:p.Thr40Met | |
| ENST00000637823.1:c.45C>T | ||
| ENST00000637888.1:c.119C>T | ENSP00000490546.1:p.Thr40Met | |
| ENST00000638076.1:c.119C>T | ENSP00000490373.1:p.Thr40Met | |
| ENST00000638144.1:n.31-4227C>T | ||
| ENST00000249806.9:c.119C>T | ENSP00000249806.5:p.Thr40Met | |
| ENST00000538696.5:c.215C>T | ENSP00000445770.1:p.Thr72Met | |
| ENST00000562767.1:c.83+10887C>T | ENSP00000456336.1:n.83+10887C>T | |
| ENST00000564752.1:c.119C>T | ENSP00000457822.1:p.Thr40Met | |
| ENST00000564846.1:n.551C>T | ||
| ENST00000565471.5:c.84-8856C>T | ENSP00000457384.1:n.84-8856C>T | |
| ENST00000566347.5:c.119C>T | ENSP00000457783.1:p.Thr40Met | |
| ENST00000567060.5:c.119C>T | ENSP00000454818.1:p.Thr40Met | |
| ENST00000569336.1:n.205C>T | ||
| NM_017882.2:c.119C>T | NP_060352.1:p.Thr40Met | |
| XR_931861.1:n.222C>T | ||
| NM_017882.3:c.119C>T MANE Select | NP_060352.1:p.Thr40Met |