Linked Data
ClinVar Variation Id:
1953839
ClinVar RCV Id:
RCV002705218
dbSNP Id:
rs926762361
gnomAD v3:
2-165309345-A-T
gnomAD v4:
2-165309345-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165309345A>T , CM000664.2:g.165309345A>T | GRCh38 |
| NC_000002.11:g.166165855A>T , CM000664.1:g.166165855A>T | GRCh37 |
| NC_000002.10:g.165874101A>T | NCBI36 |
| NG_008143.1:g.74944A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000631182.3:c.697+89A>T MANE Plus Clinical | ENSP00000486885.1:n.697+89A>T | |
| ENST00000375437.7:c.606-7A>T MANE Select | ENSP00000364586.2:n.606-7A>T | |
| ENST00000635945.1:n.969-7A>T | ||
| ENST00000636071.2:c.697+89A>T | ENSP00000490107.1:n.697+89A>T | |
| ENST00000636135.1:c.477-7A>T | ENSP00000489821.1:n.477-7A>T | |
| ENST00000636384.2:c.606-7A>T | ENSP00000490765.1:n.606-7A>T | |
| ENST00000636662.2:c.*1129-7A>T | ENSP00000489873.1:n.*1129-7A>T | |
| ENST00000636769.1:c.606-7A>T | ENSP00000490800.1:n.606-7A>T | |
| ENST00000636985.2:c.210-7A>T | ENSP00000490849.1:n.210-7A>T | |
| ENST00000637266.2:c.606-7A>T | ENSP00000490866.1:n.606-7A>T | |
| ENST00000637367.1:c.*539-7A>T | ENSP00000490592.1:n.*539-7A>T | |
| ENST00000638151.1:n.690-7A>T | ||
| ENST00000283256.10:c.606-7A>T | ENSP00000283256.6:n.606-7A>T | |
| ENST00000375427.4:c.697+89A>T | ENSP00000364576.2:n.697+89A>T | |
| ENST00000375437.6:c.606-7A>T | ENSP00000364586.2:n.606-7A>T | |
| ENST00000424833.5:c.606-7A>T | ENSP00000406454.2:n.606-7A>T | |
| ENST00000480032.4:n.749-7A>T | ||
| ENST00000486878.2:c.147-7A>T | ENSP00000487466.1:n.147-7A>T | |
| ENST00000631182.2:c.697+89A>T | ENSP00000486885.1:n.697+89A>T | |
| NM_001040142.1:c.606-7A>T | NP_001035232.1:n.606-7A>T | |
| NM_001040143.1:c.697+89A>T | NP_001035233.1:n.697+89A>T | |
| NM_021007.2:c.606-7A>T | NP_066287.2:n.606-7A>T | |
| XM_005246750.2:c.606-7A>T | XP_005246807.1:n.606-7A>T | |
| XM_005246753.2:c.697+89A>T | XP_005246810.1:n.697+89A>T | |
| XM_005246754.3:c.576-7A>T | XP_005246811.1:n.576-7A>T | |
| XM_005246755.3:c.-57+551A>T | XP_005246812.1:n.-57+551A>T | |
| XM_011511608.1:c.606-7A>T | XP_011509910.1:n.606-7A>T | |
| XM_011511609.1:c.606-7A>T | XP_011509911.1:n.606-7A>T | |
| XM_005246753.3:c.697+89A>T | XP_005246810.1:n.697+89A>T | |
| XM_017004656.1:c.606-7A>T | XP_016860145.1:n.606-7A>T | |
| XM_017004657.1:c.697+89A>T | XP_016860146.1:n.697+89A>T | |
| XM_017004658.1:c.-155A>T | XP_016860147.1:n.-155A>T | |
| XM_024453037.1:c.-57+551A>T | XP_024308805.1:n.-57+551A>T | |
| NM_001040142.2:c.606-7A>T MANE Select | NP_001035232.1:n.606-7A>T | |
| NM_001040143.2:c.697+89A>T | NP_001035233.1:n.697+89A>T | |
| NM_001371246.1:c.697+89A>T MANE Plus Clinical | NP_001358175.1:n.697+89A>T | |
| NM_001371247.1:c.606-7A>T | NP_001358176.1:n.606-7A>T | |
| NM_021007.3:c.606-7A>T | NP_066287.2:n.606-7A>T |