Linked Data
ClinVar Variation Id:
205153
dbSNP Id:
rs779456928
ExAC:
15:68510956 C / T
gnomAD v2:
15-68510956-C-T
gnomAD v4:
15-68218618-C-T
COSMIC:
COSM5947393
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68218618C>T , CM000677.2:g.68218618C>T | GRCh38 |
| NC_000015.9:g.68510956C>T , CM000677.1:g.68510956C>T | GRCh37 |
| NC_000015.8:g.66298010C>T | NCBI36 |
| NG_008764.2:g.43594G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.116G>A MANE Select | ENSP00000249806.5:p.Arg39His | |
| ENST00000562767.2:c.83+10884G>A | ENSP00000456336.1:n.83+10884G>A | |
| ENST00000563917.2:n.41-4230G>A | ||
| ENST00000565471.6:c.84-8859G>A | ENSP00000457384.1:n.84-8859G>A | |
| ENST00000569336.2:n.25G>A | ||
| ENST00000635747.1:c.*19G>A | ENSP00000490627.1:n.*19G>A | |
| ENST00000636020.1:n.248G>A | ||
| ENST00000636212.1:c.116G>A | ENSP00000489851.1:p.Arg39His | |
| ENST00000636314.1:c.84-4230G>A | ENSP00000490295.1:n.84-4230G>A | |
| ENST00000636876.1:c.*136G>A | ENSP00000489950.1:n.*136G>A | |
| ENST00000637054.1:c.116G>A | ENSP00000490807.1:p.Arg39His | |
| ENST00000637223.1:c.*19G>A | ENSP00000490010.1:n.*19G>A | |
| ENST00000637329.1:c.27G>A | ||
| ENST00000637450.1:c.84-4230G>A | ENSP00000490204.1:n.84-4230G>A | |
| ENST00000637494.1:c.116G>A | ENSP00000490057.1:p.Arg39His | |
| ENST00000637667.1:c.116G>A | ENSP00000489843.1:p.Arg39His | |
| ENST00000637823.1:c.42G>A | ||
| ENST00000637888.1:c.116G>A | ENSP00000490546.1:p.Arg39His | |
| ENST00000638076.1:c.116G>A | ENSP00000490373.1:p.Arg39His | |
| ENST00000638144.1:n.31-4230G>A | ||
| ENST00000249806.9:c.116G>A | ENSP00000249806.5:p.Arg39His | |
| ENST00000538696.5:c.212G>A | ENSP00000445770.1:p.Arg71His | |
| ENST00000562767.1:c.83+10884G>A | ENSP00000456336.1:n.83+10884G>A | |
| ENST00000564752.1:c.116G>A | ENSP00000457822.1:p.Arg39His | |
| ENST00000564846.1:n.548G>A | ||
| ENST00000565471.5:c.84-8859G>A | ENSP00000457384.1:n.84-8859G>A | |
| ENST00000566347.5:c.116G>A | ENSP00000457783.1:p.Arg39His | |
| ENST00000567060.5:c.116G>A | ENSP00000454818.1:p.Arg39His | |
| ENST00000569336.1:n.202G>A | ||
| NM_017882.2:c.116G>A | NP_060352.1:p.Arg39His | |
| XR_931861.1:n.219G>A | ||
| NM_017882.3:c.116G>A MANE Select | NP_060352.1:p.Arg39His |