Linked Data
ClinVar Variation Id:
521180
ClinVar RCV Id:
RCV000622964
dbSNP Id:
rs1553564177
gnomAD v4:
2-165295924-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165295924C>T , CM000664.2:g.165295924C>T | GRCh38 |
| NC_000002.11:g.166152434C>T , CM000664.1:g.166152434C>T | GRCh37 |
| NC_000002.10:g.165860680C>T | NCBI36 |
| NG_008143.1:g.61523C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000631182.3:c.101C>T MANE Plus Clinical | ENSP00000486885.1:p.Ala34Val | |
| ENST00000375437.7:c.101C>T MANE Select | ENSP00000364586.2:p.Ala34Val | |
| ENST00000635945.1:n.464C>T | ||
| ENST00000636071.2:c.101C>T | ENSP00000490107.1:p.Ala34Val | |
| ENST00000636135.1:c.101C>T | ENSP00000489821.1:p.Ala34Val | |
| ENST00000636384.2:c.101C>T | ENSP00000490765.1:p.Ala34Val | |
| ENST00000636662.2:c.101C>T | ENSP00000489873.1:p.Ala34Val | |
| ENST00000636769.1:c.101C>T | ENSP00000490800.1:p.Ala34Val | |
| ENST00000636985.2:c.-508C>T | ENSP00000490849.1:n.-508C>T | |
| ENST00000637266.2:c.101C>T | ENSP00000490866.1:p.Ala34Val | |
| ENST00000637367.1:c.101C>T | ENSP00000490592.1:p.Ala34Val | |
| ENST00000638151.1:n.185C>T | ||
| ENST00000283256.10:c.101C>T | ENSP00000283256.6:p.Ala34Val | |
| ENST00000375427.4:c.101C>T | ENSP00000364576.2:p.Ala34Val | |
| ENST00000375437.6:c.101C>T | ENSP00000364586.2:p.Ala34Val | |
| ENST00000424833.5:c.101C>T | ENSP00000406454.2:p.Ala34Val | |
| ENST00000480032.4:n.244C>T | ||
| ENST00000631182.2:c.101C>T | ENSP00000486885.1:p.Ala34Val | |
| NM_001040142.1:c.101C>T | NP_001035232.1:p.Ala34Val | |
| NM_001040143.1:c.101C>T | NP_001035233.1:p.Ala34Val | |
| NM_021007.2:c.101C>T | NP_066287.2:p.Ala34Val | |
| XM_005246750.2:c.101C>T | XP_005246807.1:p.Ala34Val | |
| XM_005246753.2:c.101C>T | XP_005246810.1:p.Ala34Val | |
| XM_005246754.3:c.71C>T | XP_005246811.1:p.Ala24Val | |
| XM_011511608.1:c.101C>T | XP_011509910.1:p.Ala34Val | |
| XM_011511609.1:c.101C>T | XP_011509911.1:p.Ala34Val | |
| XM_005246753.3:c.101C>T | XP_005246810.1:p.Ala34Val | |
| XM_017004656.1:c.101C>T | XP_016860145.1:p.Ala34Val | |
| XM_017004657.1:c.101C>T | XP_016860146.1:p.Ala34Val | |
| XM_017004658.1:c.-840C>T | XP_016860147.1:n.-840C>T | |
| XM_024453037.1:c.-561C>T | XP_024308805.1:n.-561C>T | |
| NM_001040142.2:c.101C>T MANE Select | NP_001035232.1:p.Ala34Val | |
| NM_001040143.2:c.101C>T | NP_001035233.1:p.Ala34Val | |
| NM_001371246.1:c.101C>T MANE Plus Clinical | NP_001358175.1:p.Ala34Val | |
| NM_001371247.1:c.101C>T | NP_001358176.1:p.Ala34Val | |
| NM_021007.3:c.101C>T | NP_066287.2:p.Ala34Val |