Linked Data
ClinVar Variation Id:
337385
dbSNP Id:
rs141976852
gnomAD v2:
2-86444068-A-G
gnomAD v3:
2-86216945-A-G
gnomAD v4:
2-86216945-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86216945A>G , CM000664.2:g.86216945A>G | GRCh38 |
| NC_000002.11:g.86444068A>G , CM000664.1:g.86444068A>G | GRCh37 |
| NC_000002.10:g.86297579A>G | NCBI36 |
| NG_013037.1:g.126139T>C , LRG_713:g.126139T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643817.2:c.*94T>C | ENSP00000495610.2:n.*94T>C | |
| ENST00000686220.1:c.*209T>C | ENSP00000509904.1:n.*209T>C | |
| ENST00000687696.1:n.291T>C | ||
| ENST00000687927.1:n.1227T>C | ||
| ENST00000688400.1:c.449T>C | ENSP00000510490.1:n.449T>C | |
| ENST00000689156.1:c.*94T>C | ENSP00000509143.1:n.*94T>C | |
| ENST00000691093.1:c.*155T>C | ENSP00000509465.1:n.*155T>C | |
| ENST00000691703.1:c.*155T>C | ENSP00000508496.1:n.*155T>C | |
| ENST00000692664.1:c.*155T>C | ENSP00000508656.1:n.*155T>C | |
| ENST00000693329.1:c.*235T>C | ENSP00000508490.1:n.*235T>C | |
| ENST00000453231.6:c.*155T>C | ENSP00000392197.2:n.*155T>C | |
| ENST00000535845.6:c.*155T>C | ENSP00000437567.1:n.*155T>C | |
| ENST00000538924.7:c.*94T>C MANE Select | ENSP00000438346.3:n.*94T>C | |
| ENST00000541910.6:c.*94T>C | ENSP00000442681.1:n.*94T>C | |
| ENST00000642243.1:c.1057T>C | ENSP00000494960.1:n.1057T>C | |
| ENST00000643817.1:c.871T>C | ENSP00000495610.1:n.871T>C | |
| ENST00000644644.1:c.958T>C | ENSP00000494305.1:n.958T>C | |
| ENST00000646181.1:n.634T>C | ||
| ENST00000165698.9:c.*155T>C | ENSP00000165698.5:n.*155T>C | |
| ENST00000535845.5:c.*155T>C | ENSP00000437567.1:n.*155T>C | |
| ENST00000538924.5:c.*155T>C | ENSP00000438346.1:n.*155T>C | |
| ENST00000541910.5:c.*94T>C | ENSP00000442681.1:n.*94T>C | |
| NM_001164730.1:c.*155T>C , LRG_713t1:c.*155T>C | NP_001158202.1:n.*155T>C | |
| NM_001164731.1:c.*155T>C | NP_001158203.1:n.*155T>C | |
| NM_001164732.1:c.*94T>C | NP_001158204.1:n.*94T>C | |
| NM_022912.2:c.*155T>C , LRG_713t2:c.*155T>C | NP_075063.1:n.*155T>C | |
| XM_005264502.1:c.*94T>C | XP_005264559.1:n.*94T>C | |
| XM_005264504.1:c.*94T>C | XP_005264561.1:n.*94T>C | |
| XM_011533043.1:c.*94T>C | XP_011531345.1:n.*94T>C | |
| XM_011533044.1:c.*94T>C | XP_011531346.1:n.*94T>C | |
| XM_011533045.1:c.*94T>C | XP_011531347.1:n.*94T>C | |
| XM_005264502.2:c.*94T>C | XP_005264559.1:n.*94T>C | |
| XM_011533045.2:c.*94T>C | XP_011531347.1:n.*94T>C | |
| XM_017004725.1:c.*94T>C | XP_016860214.1:n.*94T>C | |
| XM_017004726.1:c.*155T>C | XP_016860215.1:n.*155T>C | |
| XM_017004727.1:c.*155T>C | XP_016860216.1:n.*155T>C | |
| NM_001164730.2:c.*155T>C | NP_001158202.1:n.*155T>C | |
| NM_001164731.2:c.*155T>C | NP_001158203.1:n.*155T>C | |
| NM_001164732.2:c.*94T>C | NP_001158204.1:n.*94T>C | |
| NM_001371279.1:c.*94T>C MANE Select | NP_001358208.1:n.*94T>C | |
| NM_001371280.1:c.*94T>C | NP_001358209.1:n.*94T>C | |
| NM_022912.3:c.*155T>C | NP_075063.1:n.*155T>C |