Linked Data
ClinVar Variation Id:
337373
dbSNP Id:
rs12328643
gnomAD v2:
2-86442905-G-A
gnomAD v3:
2-86215782-G-A
gnomAD v4:
2-86215782-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86215782G>A , CM000664.2:g.86215782G>A | GRCh38 |
| NC_000002.11:g.86442905G>A , CM000664.1:g.86442905G>A | GRCh37 |
| NC_000002.10:g.86296416G>A | NCBI36 |
| NG_013037.1:g.127302C>T , LRG_713:g.127302C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643817.2:c.*1257C>T | ENSP00000495610.2:n.*1257C>T | |
| ENST00000686220.1:c.*1372C>T | ENSP00000509904.1:n.*1372C>T | |
| ENST00000687696.1:n.1454C>T | ||
| ENST00000687927.1:n.2390C>T | ||
| ENST00000688400.1:c.1612C>T | ENSP00000510490.1:n.1612C>T | |
| ENST00000689156.1:c.*1257C>T | ENSP00000509143.1:n.*1257C>T | |
| ENST00000691093.1:c.*1318C>T | ENSP00000509465.1:n.*1318C>T | |
| ENST00000692664.1:c.*1318C>T | ENSP00000508656.1:n.*1318C>T | |
| ENST00000693329.1:c.*1398C>T | ENSP00000508490.1:n.*1398C>T | |
| ENST00000538924.7:c.*1257C>T MANE Select | ENSP00000438346.3:n.*1257C>T | |
| ENST00000643817.1:c.2034C>T | ENSP00000495610.1:n.2034C>T | |
| ENST00000644644.1:c.2121C>T | ENSP00000494305.1:n.2121C>T | |
| ENST00000646181.1:n.1797C>T | ||
| ENST00000165698.9:c.*1318C>T | ENSP00000165698.5:n.*1318C>T | |
| ENST00000535845.5:c.*1318C>T | ENSP00000437567.1:n.*1318C>T | |
| ENST00000538924.5:c.*1318C>T | ENSP00000438346.1:n.*1318C>T | |
| ENST00000541910.5:c.*1257C>T | ENSP00000442681.1:n.*1257C>T | |
| NM_001164730.1:c.*1318C>T , LRG_713t1:c.*1318C>T | NP_001158202.1:n.*1318C>T | |
| NM_001164731.1:c.*1318C>T | NP_001158203.1:n.*1318C>T | |
| NM_001164732.1:c.*1257C>T | NP_001158204.1:n.*1257C>T | |
| NM_022912.2:c.*1318C>T , LRG_713t2:c.*1318C>T | NP_075063.1:n.*1318C>T | |
| XM_005264502.1:c.*1257C>T | XP_005264559.1:n.*1257C>T | |
| XM_005264504.1:c.*1257C>T | XP_005264561.1:n.*1257C>T | |
| XM_011533043.1:c.*1257C>T | XP_011531345.1:n.*1257C>T | |
| XM_011533044.1:c.*1257C>T | XP_011531346.1:n.*1257C>T | |
| XM_011533045.1:c.*1257C>T | XP_011531347.1:n.*1257C>T | |
| XM_005264502.2:c.*1257C>T | XP_005264559.1:n.*1257C>T | |
| XM_011533045.2:c.*1257C>T | XP_011531347.1:n.*1257C>T | |
| XM_017004725.1:c.*1257C>T | XP_016860214.1:n.*1257C>T | |
| XM_017004727.1:c.*1318C>T | XP_016860216.1:n.*1318C>T | |
| NM_001164730.2:c.*1318C>T | NP_001158202.1:n.*1318C>T | |
| NM_001164731.2:c.*1318C>T | NP_001158203.1:n.*1318C>T | |
| NM_001164732.2:c.*1257C>T | NP_001158204.1:n.*1257C>T | |
| NM_001371279.1:c.*1257C>T MANE Select | NP_001358208.1:n.*1257C>T | |
| NM_001371280.1:c.*1257C>T | NP_001358209.1:n.*1257C>T | |
| NM_022912.3:c.*1318C>T | NP_075063.1:n.*1318C>T |