Linked Data
ClinVar Variation Id:
1320877
ClinVar RCV Id:
RCV001776856
dbSNP Id:
rs1331552676
gnomAD v2:
2-166243508-G-A
gnomAD v4:
2-165386998-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165386998G>A , CM000664.2:g.165386998G>A | GRCh38 |
| NC_000002.11:g.166243508G>A , CM000664.1:g.166243508G>A | GRCh37 |
| NC_000002.10:g.165951754G>A | NCBI36 |
| NG_008143.1:g.152597G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000631182.3:c.4804G>A MANE Plus Clinical | ENSP00000486885.1:p.Val1602Ile | |
| ENST00000375437.7:c.4804G>A MANE Select | ENSP00000364586.2:p.Val1602Ile | |
| ENST00000636071.2:c.4804G>A | ENSP00000490107.1:p.Val1602Ile | |
| ENST00000636135.1:c.*3123G>A | ENSP00000489821.1:n.*3123G>A | |
| ENST00000636384.2:c.*2791G>A | ENSP00000490765.1:n.*2791G>A | |
| ENST00000636662.2:c.*5327G>A | ENSP00000489873.1:n.*5327G>A | |
| ENST00000636769.1:c.*2746G>A | ENSP00000490800.1:n.*2746G>A | |
| ENST00000636985.2:c.4408G>A | ENSP00000490849.1:p.Val1470Ile | |
| ENST00000637266.2:c.4804G>A | ENSP00000490866.1:p.Val1602Ile | |
| ENST00000283256.10:c.4804G>A | ENSP00000283256.6:p.Val1602Ile | |
| ENST00000375427.4:c.4804G>A | ENSP00000364576.2:p.Val1602Ile | |
| ENST00000375437.6:c.4804G>A | ENSP00000364586.2:p.Val1602Ile | |
| ENST00000480032.4:n.8235G>A | ||
| ENST00000631182.2:c.4804G>A | ENSP00000486885.1:p.Val1602Ile | |
| NM_001040142.1:c.4804G>A | NP_001035232.1:p.Val1602Ile | |
| NM_001040143.1:c.4804G>A | NP_001035233.1:p.Val1602Ile | |
| NM_021007.2:c.4804G>A | NP_066287.2:p.Val1602Ile | |
| XM_005246750.2:c.4804G>A | XP_005246807.1:p.Val1602Ile | |
| XM_005246753.2:c.4804G>A | XP_005246810.1:p.Val1602Ile | |
| XM_005246754.3:c.4774G>A | XP_005246811.1:p.Val1592Ile | |
| XM_005246755.3:c.4051G>A | XP_005246812.1:p.Val1351Ile | |
| XM_011511608.1:c.4804G>A | XP_011509910.1:p.Val1602Ile | |
| XM_011511609.1:c.4804G>A | XP_011509911.1:p.Val1602Ile | |
| XM_005246753.3:c.4804G>A | XP_005246810.1:p.Val1602Ile | |
| XM_017004656.1:c.4804G>A | XP_016860145.1:p.Val1602Ile | |
| XM_017004657.1:c.4804G>A | XP_016860146.1:p.Val1602Ile | |
| XM_017004658.1:c.4051G>A | XP_016860147.1:p.Val1351Ile | |
| XM_017004659.1:c.2602G>A | XP_016860148.1:p.Val868Ile | |
| XM_024453037.1:c.4051G>A | XP_024308805.1:p.Val1351Ile | |
| NM_001040142.2:c.4804G>A MANE Select | NP_001035232.1:p.Val1602Ile | |
| NM_001040143.2:c.4804G>A | NP_001035233.1:p.Val1602Ile | |
| NM_001371246.1:c.4804G>A MANE Plus Clinical | NP_001358175.1:p.Val1602Ile | |
| NM_001371247.1:c.4804G>A | NP_001358176.1:p.Val1602Ile | |
| NM_021007.3:c.4804G>A | NP_066287.2:p.Val1602Ile |