Linked Data
ClinVar Variation Id:
523022
dbSNP Id:
rs751486476
ExAC:
15:68510887 C / T
gnomAD v2:
15-68510887-C-T
gnomAD v4:
15-68218549-C-T
COSMIC:
COSM6309426
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68218549C>T , CM000677.2:g.68218549C>T | GRCh38 |
| NC_000015.9:g.68510887C>T , CM000677.1:g.68510887C>T | GRCh37 |
| NC_000015.8:g.66297941C>T | NCBI36 |
| NG_008764.2:g.43663G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.185G>A MANE Select | ENSP00000249806.5:p.Arg62His | |
| ENST00000562767.2:c.83+10953G>A | ENSP00000456336.1:n.83+10953G>A | |
| ENST00000563917.2:n.41-4161G>A | ||
| ENST00000565471.6:c.84-8790G>A | ENSP00000457384.1:n.84-8790G>A | |
| ENST00000569336.2:n.94G>A | ||
| ENST00000635747.1:c.*88G>A | ENSP00000490627.1:n.*88G>A | |
| ENST00000636020.1:n.317G>A | ||
| ENST00000636212.1:c.185G>A | ENSP00000489851.1:p.Arg62His | |
| ENST00000636314.1:c.84-4161G>A | ENSP00000490295.1:n.84-4161G>A | |
| ENST00000637054.1:c.185G>A | ENSP00000490807.1:p.Arg62His | |
| ENST00000637223.1:c.*88G>A | ENSP00000490010.1:n.*88G>A | |
| ENST00000637329.1:c.96G>A | ||
| ENST00000637450.1:c.84-4161G>A | ENSP00000490204.1:n.84-4161G>A | |
| ENST00000637494.1:c.185G>A | ENSP00000490057.1:p.Arg62His | |
| ENST00000637667.1:c.185G>A | ENSP00000489843.1:p.Arg62His | |
| ENST00000637823.1:c.111G>A | ||
| ENST00000637888.1:c.185G>A | ENSP00000490546.1:p.Arg62His | |
| ENST00000638076.1:c.185G>A | ENSP00000490373.1:p.Arg62His | |
| ENST00000638144.1:n.31-4161G>A | ||
| ENST00000646164.1:c.25G>A | ||
| ENST00000249806.9:c.185G>A | ENSP00000249806.5:p.Arg62His | |
| ENST00000538696.5:c.281G>A | ENSP00000445770.1:p.Arg94His | |
| ENST00000562767.1:c.83+10953G>A | ENSP00000456336.1:n.83+10953G>A | |
| ENST00000564752.1:c.185G>A | ENSP00000457822.1:p.Arg62His | |
| ENST00000564846.1:n.617G>A | ||
| ENST00000565471.5:c.84-8790G>A | ENSP00000457384.1:n.84-8790G>A | |
| ENST00000566347.5:c.185G>A | ENSP00000457783.1:p.Arg62His | |
| ENST00000567060.5:c.185G>A | ENSP00000454818.1:p.Arg62His | |
| ENST00000569336.1:n.271G>A | ||
| NM_017882.2:c.185G>A | NP_060352.1:p.Arg62His | |
| XR_931861.1:n.288G>A | ||
| NM_017882.3:c.185G>A MANE Select | NP_060352.1:p.Arg62His |