Linked Data
ClinVar Variation Id:
337382
dbSNP Id:
rs60838463
gnomAD v2:
2-86443532-C-T
gnomAD v3:
2-86216409-C-T
gnomAD v4:
2-86216409-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86216409C>T , CM000664.2:g.86216409C>T | GRCh38 |
| NC_000002.11:g.86443532C>T , CM000664.1:g.86443532C>T | GRCh37 |
| NC_000002.10:g.86297043C>T | NCBI36 |
| NG_013037.1:g.126675G>A , LRG_713:g.126675G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643817.2:c.*630G>A | ENSP00000495610.2:n.*630G>A | |
| ENST00000686220.1:c.*745G>A | ENSP00000509904.1:n.*745G>A | |
| ENST00000687696.1:n.827G>A | ||
| ENST00000687927.1:n.1763G>A | ||
| ENST00000688400.1:c.985G>A | ENSP00000510490.1:n.985G>A | |
| ENST00000689156.1:c.*630G>A | ENSP00000509143.1:n.*630G>A | |
| ENST00000691093.1:c.*691G>A | ENSP00000509465.1:n.*691G>A | |
| ENST00000692664.1:c.*691G>A | ENSP00000508656.1:n.*691G>A | |
| ENST00000693329.1:c.*771G>A | ENSP00000508490.1:n.*771G>A | |
| ENST00000538924.7:c.*630G>A MANE Select | ENSP00000438346.3:n.*630G>A | |
| ENST00000643817.1:c.1407G>A | ENSP00000495610.1:n.1407G>A | |
| ENST00000644644.1:c.1494G>A | ENSP00000494305.1:n.1494G>A | |
| ENST00000646181.1:n.1170G>A | ||
| ENST00000165698.9:c.*691G>A | ENSP00000165698.5:n.*691G>A | |
| ENST00000535845.5:c.*691G>A | ENSP00000437567.1:n.*691G>A | |
| ENST00000538924.5:c.*691G>A | ENSP00000438346.1:n.*691G>A | |
| ENST00000541910.5:c.*630G>A | ENSP00000442681.1:n.*630G>A | |
| NM_001164730.1:c.*691G>A , LRG_713t1:c.*691G>A | NP_001158202.1:n.*691G>A | |
| NM_001164731.1:c.*691G>A | NP_001158203.1:n.*691G>A | |
| NM_001164732.1:c.*630G>A | NP_001158204.1:n.*630G>A | |
| NM_022912.2:c.*691G>A , LRG_713t2:c.*691G>A | NP_075063.1:n.*691G>A | |
| XM_005264502.1:c.*630G>A | XP_005264559.1:n.*630G>A | |
| XM_005264504.1:c.*630G>A | XP_005264561.1:n.*630G>A | |
| XM_011533043.1:c.*630G>A | XP_011531345.1:n.*630G>A | |
| XM_011533044.1:c.*630G>A | XP_011531346.1:n.*630G>A | |
| XM_011533045.1:c.*630G>A | XP_011531347.1:n.*630G>A | |
| XM_005264502.2:c.*630G>A | XP_005264559.1:n.*630G>A | |
| XM_011533045.2:c.*630G>A | XP_011531347.1:n.*630G>A | |
| XM_017004725.1:c.*630G>A | XP_016860214.1:n.*630G>A | |
| XM_017004727.1:c.*691G>A | XP_016860216.1:n.*691G>A | |
| NM_001164730.2:c.*691G>A | NP_001158202.1:n.*691G>A | |
| NM_001164731.2:c.*691G>A | NP_001158203.1:n.*691G>A | |
| NM_001164732.2:c.*630G>A | NP_001158204.1:n.*630G>A | |
| NM_001371279.1:c.*630G>A MANE Select | NP_001358208.1:n.*630G>A | |
| NM_001371280.1:c.*630G>A | NP_001358209.1:n.*630G>A | |
| NM_022912.3:c.*691G>A | NP_075063.1:n.*691G>A |