Linked Data
ClinVar Variation Id:
331725
ClinVar RCV Id:
RCV000271280
dbSNP Id:
rs886054998
gnomAD v3:
2-165294044-T-C
gnomAD v4:
2-165294044-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165294044T>C , CM000664.2:g.165294044T>C | GRCh38 |
| NC_000002.11:g.166150554T>C , CM000664.1:g.166150554T>C | GRCh37 |
| NC_000002.10:g.165858800T>C | NCBI36 |
| NG_008143.1:g.59643T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000631182.3:c.-51-1729T>C MANE Plus Clinical | ENSP00000486885.1:n.-51-1729T>C | |
| ENST00000375437.7:c.-51-1729T>C MANE Select | ENSP00000364586.2:n.-51-1729T>C | |
| ENST00000635945.1:n.313-1729T>C | ||
| ENST00000636071.2:c.-51-1729T>C | ENSP00000490107.1:n.-51-1729T>C | |
| ENST00000636135.1:c.-51-1729T>C | ENSP00000489821.1:n.-51-1729T>C | |
| ENST00000636384.2:c.-51-1729T>C | ENSP00000490765.1:n.-51-1729T>C | |
| ENST00000636662.2:c.-143T>C | ENSP00000489873.1:n.-143T>C | |
| ENST00000636985.2:c.-552-1836T>C | ENSP00000490849.1:n.-552-1836T>C | |
| ENST00000637266.2:c.-51-1729T>C | ENSP00000490866.1:n.-51-1729T>C | |
| ENST00000637367.1:c.-51-1729T>C | ENSP00000490592.1:n.-51-1729T>C | |
| ENST00000638151.1:n.141-1836T>C | ||
| ENST00000283256.10:c.-143T>C | ENSP00000283256.6:n.-143T>C | |
| ENST00000375437.6:c.-51-1729T>C | ENSP00000364586.2:n.-51-1729T>C | |
| ENST00000424833.5:c.-51-1729T>C | ENSP00000406454.2:n.-51-1729T>C | |
| ENST00000480032.4:n.1T>C | ||
| ENST00000631182.2:c.-51-1729T>C | ENSP00000486885.1:n.-51-1729T>C | |
| NM_001040142.1:c.-51-1729T>C | NP_001035232.1:n.-51-1729T>C | |
| NM_021007.2:c.-143T>C | NP_066287.2:n.-143T>C | |
| XM_005246750.2:c.-51-1729T>C | XP_005246807.1:n.-51-1729T>C | |
| XM_005246753.2:c.-51-1729T>C | XP_005246810.1:n.-51-1729T>C | |
| XM_005246754.3:c.27-1836T>C | XP_005246811.1:n.27-1836T>C | |
| XM_011511608.1:c.-51-1729T>C | XP_011509910.1:n.-51-1729T>C | |
| XM_011511609.1:c.-51-1729T>C | XP_011509911.1:n.-51-1729T>C | |
| XM_005246753.3:c.-51-1729T>C | XP_005246810.1:n.-51-1729T>C | |
| XM_017004656.1:c.-51-1729T>C | XP_016860145.1:n.-51-1729T>C | |
| XM_017004657.1:c.-143T>C | XP_016860146.1:n.-143T>C | |
| XM_017004658.1:c.-991-1729T>C | XP_016860147.1:n.-991-1729T>C | |
| XM_024453037.1:c.-712-1729T>C | XP_024308805.1:n.-712-1729T>C | |
| NM_001040142.2:c.-51-1729T>C MANE Select | NP_001035232.1:n.-51-1729T>C | |
| NM_001040143.2:c.-51-1729T>C | NP_001035233.1:n.-51-1729T>C | |
| NM_001371246.1:c.-51-1729T>C MANE Plus Clinical | NP_001358175.1:n.-51-1729T>C | |
| NM_001371247.1:c.-51-1729T>C | NP_001358176.1:n.-51-1729T>C |