Linked Data
dbSNP Id:
rs750705276
gnomAD v2:
19-35824017-C-T
gnomAD v3:
19-35333114-C-T
gnomAD v4:
19-35333114-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35333114C>T , CM000681.2:g.35333114C>T | GRCh38 |
| NC_000019.9:g.35824017C>T , CM000681.1:g.35824017C>T | GRCh37 |
| NC_000019.8:g.40515857C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000085219.10:c.412+190C>T MANE Select | ENSP00000085219.4:n.412+190C>T | |
| ENST00000085219.9:c.412+190C>T | ENSP00000085219.4:n.412+190C>T | |
| ENST00000270311.10:c.412+190C>T | ENSP00000270311.7:n.412+190C>T | |
| ENST00000341773.10:c.412+190C>T | ENSP00000339349.6:n.412+190C>T | |
| ENST00000419549.6:c.9+190C>T | ENSP00000403822.2:n.9+190C>T | |
| ENST00000536635.6:c.412+190C>T | ENSP00000442279.1:n.412+190C>T | |
| ENST00000544992.6:c.412+190C>T | ENSP00000441237.1:n.412+190C>T | |
| ENST00000593867.5:c.412+190C>T | ENSP00000471972.1:n.412+190C>T | |
| ENST00000594250.5:c.412+190C>T | ENSP00000469984.1:n.412+190C>T | |
| ENST00000594349.1:c.379+190C>T | ENSP00000470724.1:n.379+190C>T | |
| ENST00000596492.5:n.950+190C>T | ||
| ENST00000597433.1:n.430+190C>T | ||
| ENST00000597916.5:c.406+190C>T | ENSP00000472762.1:n.406+190C>T | |
| ENST00000598028.5:n.45-2922C>T | ||
| ENST00000598138.5:n.442+190C>T | ||
| ENST00000598815.5:n.44+3884C>T | ||
| ENST00000599717.5:c.*264+190C>T | ENSP00000470681.1:n.*264+190C>T | |
| ENST00000599811.5:c.412+190C>T | ENSP00000469523.1:n.412+190C>T | |
| ENST00000600131.5:c.406+190C>T | ENSP00000469503.1:n.406+190C>T | |
| ENST00000600424.5:c.406+190C>T | ENSP00000471399.1:n.406+190C>T | |
| ENST00000600655.1:n.36+3884C>T | ||
| ENST00000600905.5:n.375+190C>T | ||
| ENST00000601329.5:n.43+3884C>T | ||
| ENST00000601414.5:n.432+190C>T | ||
| ENST00000601732.5:n.316+190C>T | ||
| ENST00000601769.5:c.406+190C>T | ENSP00000470193.1:n.406+190C>T | |
| NM_001185099.1:c.412+190C>T | NP_001172028.1:n.412+190C>T | |
| NM_001185100.1:c.412+190C>T | NP_001172029.1:n.412+190C>T | |
| NM_001185101.1:c.412+190C>T | NP_001172030.1:n.412+190C>T | |
| NM_001278417.1:c.9+190C>T | NP_001265346.1:n.9+190C>T | |
| NM_001771.3:c.412+190C>T | NP_001762.2:n.412+190C>T | |
| NM_001771.4:c.412+190C>T MANE Select | NP_001762.2:n.412+190C>T | |
| NM_001185099.2:c.412+190C>T | NP_001172028.1:n.412+190C>T | |
| NM_001185100.2:c.412+190C>T | NP_001172029.1:n.412+190C>T | |
| NM_001278417.2:c.9+190C>T | NP_001265346.1:n.9+190C>T | |
| NM_001185101.2:c.412+190C>T | NP_001172030.1:n.412+190C>T |