Linked Data
ClinVar Variation Id:
257400
dbSNP Id:
rs145478892
ExAC:
12:111057718 G / A
gnomAD v2:
12-111057718-G-A
gnomAD v3:
12-110619913-G-A
gnomAD v4:
12-110619913-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110619913G>A , CM000674.2:g.110619913G>A | GRCh38 |
| NC_000012.11:g.111057718G>A , CM000674.1:g.111057718G>A | GRCh37 |
| NC_000012.10:g.109542101G>A | NCBI36 |
| NG_030381.1:g.10887G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377654.5:c.298G>A | ENSP00000366882.5:p.Val100Met | |
| ENST00000397659.9:c.298G>A MANE Select | ENSP00000380779.4:p.Val100Met | |
| ENST00000471804.7:c.298G>A | ENSP00000473903.2:p.Val100Met | |
| ENST00000547461.3:c.298G>A | ENSP00000448188.3:p.Val100Met | |
| ENST00000549123.6:c.298G>A | ENSP00000450154.2:p.Val100Met | |
| ENST00000551555.3:n.351G>A | ||
| ENST00000552038.6:n.368G>A | ||
| ENST00000614115.5:c.298G>A | ENSP00000484255.2:p.Val100Met | |
| ENST00000679401.1:c.281+5450G>A | ENSP00000506277.1:n.281+5450G>A | |
| ENST00000679473.1:c.298G>A | ENSP00000504983.1:p.Val100Met | |
| ENST00000679617.1:c.220+5511G>A | ENSP00000506626.1:n.220+5511G>A | |
| ENST00000679713.1:c.298G>A | ENSP00000504975.1:p.Val100Met | |
| ENST00000680068.1:c.*122G>A | ENSP00000506300.1:n.*122G>A | |
| ENST00000680203.1:c.298G>A | ENSP00000505195.1:p.Val100Met | |
| ENST00000680445.1:c.298G>A | ENSP00000505462.1:p.Val100Met | |
| ENST00000680512.1:c.220+5511G>A | ENSP00000505935.1:n.220+5511G>A | |
| ENST00000680548.1:c.298G>A | ENSP00000505310.1:p.Val100Met | |
| ENST00000680571.1:n.344G>A | ||
| ENST00000681395.1:c.220+5511G>A | ENSP00000505886.1:n.220+5511G>A | |
| ENST00000681437.1:c.298G>A | ENSP00000505004.1:p.Val100Met | |
| ENST00000681604.1:c.*122G>A | ENSP00000505920.1:n.*122G>A | |
| ENST00000681740.1:n.344G>A | ||
| ENST00000681807.1:c.*122G>A | ENSP00000505236.1:n.*122G>A | |
| ENST00000681851.1:c.298G>A | ENSP00000505956.1:p.Val100Met | |
| ENST00000377654.4:c.118G>A | ENSP00000366882.4:p.Val40Met | |
| ENST00000397655.7:c.298G>A | ENSP00000380775.3:p.Val100Met | |
| ENST00000397656.8:c.298G>A | ENSP00000380776.4:p.Val100Met | |
| ENST00000397659.8:c.298G>A | ENSP00000380779.4:p.Val100Met | |
| ENST00000464809.5:c.*56G>A | ENSP00000435027.1:n.*56G>A | |
| ENST00000471804.6:c.298G>A | ENSP00000473903.1:p.Val100Met | |
| ENST00000478122.6:c.*56G>A | ENSP00000474208.1:n.*56G>A | |
| ENST00000480648.5:c.298G>A | ENSP00000437196.1:p.Val100Met | |
| ENST00000481720.5:c.*134G>A | ENSP00000474291.1:n.*134G>A | |
| ENST00000490514.5:c.*122G>A | ENSP00000436044.1:n.*122G>A | |
| ENST00000495659.6:c.*56G>A | ENSP00000436673.2:n.*56G>A | |
| ENST00000498072.5:c.*254G>A | ENSP00000474525.1:n.*254G>A | |
| ENST00000546643.1:c.220+5511G>A | ENSP00000473743.1:n.220+5511G>A | |
| ENST00000547868.1:n.264+5511G>A | ||
| ENST00000550703.6:c.298G>A | ENSP00000473789.1:p.Val100Met | |
| ENST00000551555.2:n.78G>A | ||
| ENST00000551590.5:c.298G>A | ENSP00000448735.1:p.Val100Met | |
| ENST00000552318.5:c.220+5511G>A | ENSP00000474343.1:n.220+5511G>A | |
| ENST00000552762.5:n.78G>A | ||
| ENST00000614115.4:c.298G>A | ENSP00000484255.1:p.Val100Met | |
| NM_001082537.2:c.298G>A | NP_001076006.1:p.Val100Met | |
| NM_001082538.2:c.298G>A | NP_001076007.1:p.Val100Met | |
| NM_001173975.1:c.130G>A | NP_001167446.1:p.Val44Met | |
| NM_001173976.1:c.118G>A | NP_001167447.1:p.Val40Met | |
| NM_024549.5:c.298G>A | NP_078825.2:p.Val100Met | |
| XM_005253934.2:c.298G>A | XP_005253991.1:p.Val100Met | |
| XM_005253935.2:c.298G>A | XP_005253992.1:p.Val100Met | |
| XM_005253936.2:c.-410G>A | XP_005253993.1:n.-410G>A | |
| XM_006719594.1:c.130G>A | XP_006719657.1:p.Val44Met | |
| XM_006719595.1:c.-237G>A | XP_006719658.1:n.-237G>A | |
| XM_006719596.1:c.-410G>A | XP_006719659.1:n.-410G>A | |
| XM_006719597.2:c.-194+5511G>A | XP_006719660.1:n.-194+5511G>A | |
| XM_006719598.1:c.-380G>A | XP_006719661.1:n.-380G>A | |
| XM_006719599.1:c.-207G>A | XP_006719662.1:n.-207G>A | |
| XM_006719600.1:c.-164+5511G>A | XP_006719663.1:n.-164+5511G>A | |
| XM_011538733.1:c.298G>A | XP_011537035.1:p.Val100Met | |
| XM_011538734.1:c.281+5450G>A | XP_011537036.1:n.281+5450G>A | |
| XM_011538735.1:c.298G>A | XP_011537037.1:p.Val100Met | |
| XM_011538736.1:c.298G>A | XP_011537038.1:p.Val100Met | |
| XM_011538737.1:c.298G>A | XP_011537039.1:p.Val100Met | |
| XM_011538738.1:c.298G>A | XP_011537040.1:p.Val100Met | |
| XM_011538739.1:c.298G>A | XP_011537041.1:p.Val100Met | |
| XR_243021.2:n.358G>A | ||
| XR_243022.2:n.358G>A | ||
| XR_429116.1:n.358G>A | ||
| XR_944717.1:n.358G>A | ||
| NM_001173975.2:c.130G>A | NP_001167446.1:p.Val44Met | |
| NM_001319680.1:c.298G>A | NP_001306609.1:p.Val100Met | |
| NM_001319681.1:c.-410G>A | NP_001306610.1:n.-410G>A | |
| NM_001319682.1:c.130G>A | NP_001306611.1:p.Val44Met | |
| NR_135088.1:n.515G>A | ||
| XM_005253934.4:c.298G>A | XP_005253991.1:p.Val100Met | |
| XM_005253935.4:c.298G>A | XP_005253992.1:p.Val100Met | |
| XM_006719594.3:c.130G>A | XP_006719657.1:p.Val44Met | |
| XM_006719595.3:c.-237G>A | XP_006719658.1:n.-237G>A | |
| XM_006719596.3:c.-410G>A | XP_006719659.1:n.-410G>A | |
| XM_006719597.4:c.-194+5511G>A | XP_006719660.1:n.-194+5511G>A | |
| XM_006719598.3:c.-380G>A | XP_006719661.1:n.-380G>A | |
| XM_006719599.3:c.-207G>A | XP_006719662.1:n.-207G>A | |
| XM_006719600.3:c.-164+5511G>A | XP_006719663.1:n.-164+5511G>A | |
| XM_011538733.3:c.298G>A | XP_011537035.1:p.Val100Met | |
| XM_011538734.3:c.281+5450G>A | XP_011537036.1:n.281+5450G>A | |
| XM_011538735.2:c.298G>A | XP_011537037.1:p.Val100Met | |
| XM_011538737.3:c.298G>A | XP_011537039.1:p.Val100Met | |
| XM_011538738.3:c.298G>A | XP_011537040.1:p.Val100Met | |
| XM_017019964.1:c.130G>A | XP_016875453.1:p.Val44Met | |
| XM_017019966.2:c.-532G>A | XP_016875455.1:n.-532G>A | |
| XM_017019968.2:c.-367+5511G>A | XP_016875457.1:n.-367+5511G>A | |
| XM_017019969.2:c.-207G>A | XP_016875458.1:n.-207G>A | |
| XR_243021.4:n.352G>A | ||
| XR_243022.4:n.352G>A | ||
| XR_429116.3:n.352G>A | ||
| XR_944717.3:n.352G>A | ||
| NM_001082537.3:c.298G>A | NP_001076006.1:p.Val100Met | |
| NM_001082538.3:c.298G>A MANE Select | NP_001076007.1:p.Val100Met | |
| NM_001173975.3:c.130G>A | NP_001167446.1:p.Val44Met | |
| NM_001173976.2:c.118G>A | NP_001167447.1:p.Val40Met | |
| NM_001319680.2:c.298G>A | NP_001306609.1:p.Val100Met | |
| NM_001319681.2:c.-410G>A | NP_001306610.1:n.-410G>A | |
| NM_001319682.2:c.130G>A | NP_001306611.1:p.Val44Met | |
| NM_024549.6:c.298G>A | NP_078825.2:p.Val100Met | |
| NR_135088.2:n.413G>A | ||
| NM_001319682.3:c.130G>A | NP_001306611.1:p.Val44Met |