Linked Data
ClinVar Variation Id:
344432
dbSNP Id:
rs568346565
gnomAD v2:
3-189614717-C-T
gnomAD v3:
3-189896928-C-T
gnomAD v4:
3-189896928-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.189896928C>T , CM000665.2:g.189896928C>T | GRCh38 |
| NC_000003.11:g.189614717C>T , CM000665.1:g.189614717C>T | GRCh37 |
| NC_000003.10:g.191097411C>T | NCBI36 |
| NG_007550.1:g.270502C>T | |
| NG_007550.2:g.270502C>T | |
| NG_007550.3:g.305183C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264731.8:c.*2426C>T MANE Select | ENSP00000264731.3:n.*2426C>T | |
| ENST00000354600.10:c.*2426C>T MANE Plus Clinical | ENSP00000346614.5:n.*2426C>T | |
| ENST00000264731.7:c.*2426C>T | ENSP00000264731.3:n.*2426C>T | |
| ENST00000354600.9:c.*2426C>T | ENSP00000346614.5:n.*2426C>T | |
| NM_001114978.1:c.*2707C>T | NP_001108450.1:n.*2707C>T | |
| NM_001114980.1:c.*2426C>T | NP_001108452.1:n.*2426C>T | |
| NM_001114981.1:c.*2707C>T | NP_001108453.1:n.*2707C>T | |
| NM_003722.4:c.*2426C>T | NP_003713.3:n.*2426C>T | |
| XM_005247843.2:c.*2426C>T | XP_005247900.1:n.*2426C>T | |
| XM_005247844.3:c.*2426C>T | XP_005247901.1:n.*2426C>T | |
| XM_011513251.1:c.*2426C>T | XP_011511553.1:n.*2426C>T | |
| XM_011513252.1:c.*2426C>T | XP_011511554.1:n.*2426C>T | |
| XM_011513253.1:c.*2426C>T | XP_011511555.1:n.*2426C>T | |
| NM_001329144.1:c.*2697C>T | NP_001316073.1:n.*2697C>T | |
| NM_001329145.1:c.*2697C>T | NP_001316074.1:n.*2697C>T | |
| NM_001329146.1:c.*2426C>T | NP_001316075.1:n.*2426C>T | |
| NM_001329148.1:c.*2426C>T | NP_001316077.1:n.*2426C>T | |
| NM_001329149.1:c.*2697C>T | NP_001316078.1:n.*2697C>T | |
| NM_001329150.1:c.*2697C>T | NP_001316079.1:n.*2697C>T | |
| NM_001329964.1:c.*2426C>T | NP_001316893.1:n.*2426C>T | |
| NM_003722.5:c.*2426C>T MANE Select | NP_003713.3:n.*2426C>T | |
| NM_001114978.2:c.*2707C>T | NP_001108450.1:n.*2707C>T | |
| NM_001114980.2:c.*2426C>T MANE Plus Clinical | NP_001108452.1:n.*2426C>T | |
| NM_001114981.2:c.*2707C>T | NP_001108453.1:n.*2707C>T | |
| NM_001329144.2:c.*2697C>T | NP_001316073.1:n.*2697C>T | |
| NM_001329145.2:c.*2697C>T | NP_001316074.1:n.*2697C>T | |
| NM_001329146.2:c.*2426C>T | NP_001316075.1:n.*2426C>T | |
| NM_001329148.2:c.*2426C>T | NP_001316077.1:n.*2426C>T | |
| NM_001329149.2:c.*2697C>T | NP_001316078.1:n.*2697C>T | |
| NM_001329150.2:c.*2697C>T | NP_001316079.1:n.*2697C>T | |
| NM_001329964.2:c.*2426C>T | NP_001316893.1:n.*2426C>T |