Linked Data
ClinVar Variation Id:
2956155
ClinVar RCV Id:
RCV003813891
dbSNP Id:
rs908509779
gnomAD v2:
15-68504094-G-A
gnomAD v3:
15-68211756-G-A
gnomAD v4:
15-68211756-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68211756G>A , CM000677.2:g.68211756G>A | GRCh38 |
| NC_000015.9:g.68504094G>A , CM000677.1:g.68504094G>A | GRCh37 |
| NC_000015.8:g.66291148G>A | NCBI36 |
| NG_008764.2:g.50456C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.405C>T MANE Select | ENSP00000249806.5:p.His135= | |
| ENST00000562767.2:c.84-14128C>T | ENSP00000456336.1:n.84-14128C>T | |
| ENST00000563917.2:n.247C>T | ||
| ENST00000565471.6:c.84-1997C>T | ENSP00000457384.1:n.84-1997C>T | |
| ENST00000635747.1:c.*308C>T | ENSP00000490627.1:n.*308C>T | |
| ENST00000636212.1:c.298-15C>T | ENSP00000489851.1:n.298-15C>T | |
| ENST00000636314.1:c.183-438C>T | ENSP00000490295.1:n.183-438C>T | |
| ENST00000636674.1:n.1388C>T | ||
| ENST00000636964.1:n.1577C>T | ||
| ENST00000637054.1:c.198+6780C>T | ENSP00000490807.1:n.198+6780C>T | |
| ENST00000637223.1:c.*201-438C>T | ENSP00000490010.1:n.*201-438C>T | |
| ENST00000637329.1:c.374C>T | ||
| ENST00000637450.1:c.*59C>T | ENSP00000490204.1:n.*59C>T | |
| ENST00000637494.1:c.199-438C>T | ENSP00000490057.1:n.199-438C>T | |
| ENST00000637667.1:c.306C>T | ENSP00000489843.1:p.His102= | |
| ENST00000637823.1:c.224-113C>T | ||
| ENST00000637888.1:c.198+6780C>T | ENSP00000490546.1:n.198+6780C>T | |
| ENST00000638076.1:c.405C>T | ENSP00000490373.1:p.His135= | |
| ENST00000638144.1:n.130-438C>T | ||
| ENST00000646164.1:c.38+6780C>T | ||
| ENST00000249806.9:c.405C>T | ENSP00000249806.5:p.His135= | |
| ENST00000538696.5:c.501C>T | ENSP00000445770.1:p.His167= | |
| ENST00000562767.1:c.84-14128C>T | ENSP00000456336.1:n.84-14128C>T | |
| ENST00000563917.1:n.186C>T | ||
| ENST00000564752.1:c.405C>T | ENSP00000457822.1:p.His135= | |
| ENST00000565471.5:c.84-1997C>T | ENSP00000457384.1:n.84-1997C>T | |
| ENST00000566347.5:c.298-438C>T | ENSP00000457783.1:n.298-438C>T | |
| ENST00000567060.5:c.298-2036C>T | ENSP00000454818.1:n.298-2036C>T | |
| NM_017882.2:c.405C>T | NP_060352.1:p.His135= | |
| XR_931861.1:n.508C>T | ||
| NM_017882.3:c.405C>T MANE Select | NP_060352.1:p.His135= |