Linked Data
ClinVar Variation Id:
331705
ClinVar RCV Id:
RCV000267873
dbSNP Id:
rs886054989
gnomAD v3:
2-165293859-C-T
gnomAD v4:
2-165293859-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165293859C>T , CM000664.2:g.165293859C>T | GRCh38 |
| NC_000002.11:g.166150369C>T , CM000664.1:g.166150369C>T | GRCh37 |
| NC_000002.10:g.165858615C>T | NCBI36 |
| NG_008143.1:g.59458C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000631182.3:c.-51-1914C>T MANE Plus Clinical | ENSP00000486885.1:n.-51-1914C>T | |
| ENST00000375437.7:c.-51-1914C>T MANE Select | ENSP00000364586.2:n.-51-1914C>T | |
| ENST00000635945.1:n.313-1914C>T | ||
| ENST00000636071.2:c.-51-1914C>T | ENSP00000490107.1:n.-51-1914C>T | |
| ENST00000636135.1:c.-51-1914C>T | ENSP00000489821.1:n.-51-1914C>T | |
| ENST00000636384.2:c.-51-1914C>T | ENSP00000490765.1:n.-51-1914C>T | |
| ENST00000636985.2:c.-552-2021C>T | ENSP00000490849.1:n.-552-2021C>T | |
| ENST00000637266.2:c.-51-1914C>T | ENSP00000490866.1:n.-51-1914C>T | |
| ENST00000637367.1:c.-51-1914C>T | ENSP00000490592.1:n.-51-1914C>T | |
| ENST00000638151.1:n.141-2021C>T | ||
| ENST00000375437.6:c.-51-1914C>T | ENSP00000364586.2:n.-51-1914C>T | |
| ENST00000424833.5:c.-51-1914C>T | ENSP00000406454.2:n.-51-1914C>T | |
| ENST00000631182.2:c.-51-1914C>T | ENSP00000486885.1:n.-51-1914C>T | |
| NM_001040142.1:c.-51-1914C>T | NP_001035232.1:n.-51-1914C>T | |
| NM_021007.2:c.-328C>T | NP_066287.2:n.-328C>T | |
| XM_005246750.2:c.-51-1914C>T | XP_005246807.1:n.-51-1914C>T | |
| XM_005246753.2:c.-51-1914C>T | XP_005246810.1:n.-51-1914C>T | |
| XM_005246754.3:c.27-2021C>T | XP_005246811.1:n.27-2021C>T | |
| XM_011511608.1:c.-51-1914C>T | XP_011509910.1:n.-51-1914C>T | |
| XM_011511609.1:c.-51-1914C>T | XP_011509911.1:n.-51-1914C>T | |
| XM_005246753.3:c.-51-1914C>T | XP_005246810.1:n.-51-1914C>T | |
| XM_017004656.1:c.-51-1914C>T | XP_016860145.1:n.-51-1914C>T | |
| XM_017004658.1:c.-991-1914C>T | XP_016860147.1:n.-991-1914C>T | |
| XM_024453037.1:c.-712-1914C>T | XP_024308805.1:n.-712-1914C>T | |
| NM_001040142.2:c.-51-1914C>T MANE Select | NP_001035232.1:n.-51-1914C>T | |
| NM_001040143.2:c.-51-1914C>T | NP_001035233.1:n.-51-1914C>T | |
| NM_001371246.1:c.-51-1914C>T MANE Plus Clinical | NP_001358175.1:n.-51-1914C>T | |
| NM_001371247.1:c.-51-1914C>T | NP_001358176.1:n.-51-1914C>T |