Linked Data
ClinVar Variation Id:
68096
dbSNP Id:
rs154774638
ExAC:
15:68504053 C / T
gnomAD v2:
15-68504053-C-T
gnomAD v3:
15-68211715-C-T
gnomAD v4:
15-68211715-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68211715C>T , CM000677.2:g.68211715C>T | GRCh38 |
| NC_000015.9:g.68504053C>T , CM000677.1:g.68504053C>T | GRCh37 |
| NC_000015.8:g.66291107C>T | NCBI36 |
| NG_008764.2:g.50497G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.446G>A MANE Select | ENSP00000249806.5:p.Arg149His | |
| ENST00000562767.2:c.84-14087G>A | ENSP00000456336.1:n.84-14087G>A | |
| ENST00000563917.2:n.288G>A | ||
| ENST00000565471.6:c.84-1956G>A | ENSP00000457384.1:n.84-1956G>A | |
| ENST00000635747.1:c.*349G>A | ENSP00000490627.1:n.*349G>A | |
| ENST00000636212.1:c.324G>A | ENSP00000489851.1:p.Pro108= | |
| ENST00000636314.1:c.183-397G>A | ENSP00000490295.1:n.183-397G>A | |
| ENST00000636674.1:n.1429G>A | ||
| ENST00000636964.1:n.1618G>A | ||
| ENST00000637054.1:c.198+6821G>A | ENSP00000490807.1:n.198+6821G>A | |
| ENST00000637223.1:c.*201-397G>A | ENSP00000490010.1:n.*201-397G>A | |
| ENST00000637329.1:c.415G>A | ||
| ENST00000637450.1:c.*100G>A | ENSP00000490204.1:n.*100G>A | |
| ENST00000637494.1:c.199-397G>A | ENSP00000490057.1:n.199-397G>A | |
| ENST00000637667.1:c.347G>A | ENSP00000489843.1:p.Arg116His | |
| ENST00000637823.1:c.224-72G>A | ||
| ENST00000637888.1:c.198+6821G>A | ENSP00000490546.1:n.198+6821G>A | |
| ENST00000638076.1:c.446G>A | ENSP00000490373.1:p.Arg149His | |
| ENST00000638144.1:n.130-397G>A | ||
| ENST00000646164.1:c.38+6821G>A | ||
| ENST00000249806.9:c.446G>A | ENSP00000249806.5:p.Arg149His | |
| ENST00000538696.5:c.542G>A | ENSP00000445770.1:p.Arg181His | |
| ENST00000562767.1:c.84-14087G>A | ENSP00000456336.1:n.84-14087G>A | |
| ENST00000563917.1:n.227G>A | ||
| ENST00000564752.1:c.446G>A | ENSP00000457822.1:p.Arg149His | |
| ENST00000565471.5:c.84-1956G>A | ENSP00000457384.1:n.84-1956G>A | |
| ENST00000566347.5:c.298-397G>A | ENSP00000457783.1:n.298-397G>A | |
| ENST00000567060.5:c.298-1995G>A | ENSP00000454818.1:n.298-1995G>A | |
| NM_017882.2:c.446G>A | NP_060352.1:p.Arg149His | |
| XR_931861.1:n.549G>A | ||
| NM_017882.3:c.446G>A MANE Select | NP_060352.1:p.Arg149His |