Linked Data
ClinVar Variation Id:
344419
dbSNP Id:
rs567626735
gnomAD v2:
3-189614230-T-G
gnomAD v3:
3-189896441-T-G
gnomAD v4:
3-189896441-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.189896441T>G , CM000665.2:g.189896441T>G | GRCh38 |
| NC_000003.11:g.189614230T>G , CM000665.1:g.189614230T>G | GRCh37 |
| NC_000003.10:g.191096924T>G | NCBI36 |
| NG_007550.1:g.270015T>G | |
| NG_007550.2:g.270015T>G | |
| NG_007550.3:g.304696T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264731.8:c.*1939T>G MANE Select | ENSP00000264731.3:n.*1939T>G | |
| ENST00000354600.10:c.*1939T>G MANE Plus Clinical | ENSP00000346614.5:n.*1939T>G | |
| ENST00000264731.7:c.*1939T>G | ENSP00000264731.3:n.*1939T>G | |
| ENST00000354600.9:c.*1939T>G | ENSP00000346614.5:n.*1939T>G | |
| NM_001114978.1:c.*2220T>G | NP_001108450.1:n.*2220T>G | |
| NM_001114980.1:c.*1939T>G | NP_001108452.1:n.*1939T>G | |
| NM_001114981.1:c.*2220T>G | NP_001108453.1:n.*2220T>G | |
| NM_003722.4:c.*1939T>G | NP_003713.3:n.*1939T>G | |
| XM_005247843.2:c.*1939T>G | XP_005247900.1:n.*1939T>G | |
| XM_005247844.3:c.*1939T>G | XP_005247901.1:n.*1939T>G | |
| XM_011513251.1:c.*1939T>G | XP_011511553.1:n.*1939T>G | |
| XM_011513252.1:c.*1939T>G | XP_011511554.1:n.*1939T>G | |
| XM_011513253.1:c.*1939T>G | XP_011511555.1:n.*1939T>G | |
| NM_001329144.1:c.*2210T>G | NP_001316073.1:n.*2210T>G | |
| NM_001329145.1:c.*2210T>G | NP_001316074.1:n.*2210T>G | |
| NM_001329146.1:c.*1939T>G | NP_001316075.1:n.*1939T>G | |
| NM_001329148.1:c.*1939T>G | NP_001316077.1:n.*1939T>G | |
| NM_001329149.1:c.*2210T>G | NP_001316078.1:n.*2210T>G | |
| NM_001329150.1:c.*2210T>G | NP_001316079.1:n.*2210T>G | |
| NM_001329964.1:c.*1939T>G | NP_001316893.1:n.*1939T>G | |
| NM_003722.5:c.*1939T>G MANE Select | NP_003713.3:n.*1939T>G | |
| NM_001114978.2:c.*2220T>G | NP_001108450.1:n.*2220T>G | |
| NM_001114980.2:c.*1939T>G MANE Plus Clinical | NP_001108452.1:n.*1939T>G | |
| NM_001114981.2:c.*2220T>G | NP_001108453.1:n.*2220T>G | |
| NM_001329144.2:c.*2210T>G | NP_001316073.1:n.*2210T>G | |
| NM_001329145.2:c.*2210T>G | NP_001316074.1:n.*2210T>G | |
| NM_001329146.2:c.*1939T>G | NP_001316075.1:n.*1939T>G | |
| NM_001329148.2:c.*1939T>G | NP_001316077.1:n.*1939T>G | |
| NM_001329149.2:c.*2210T>G | NP_001316078.1:n.*2210T>G | |
| NM_001329150.2:c.*2210T>G | NP_001316079.1:n.*2210T>G | |
| NM_001329964.2:c.*1939T>G | NP_001316893.1:n.*1939T>G |