Linked Data
ClinVar Variation Id:
2734598
ClinVar RCV Id:
RCV003555116
dbSNP Id:
rs113994077
ExAC:
3:183859830 T / G
gnomAD v2:
3-183859830-T-G
gnomAD v4:
3-184142042-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184142042T>G , CM000665.2:g.184142042T>G | GRCh38 |
| NC_000003.11:g.183859830T>G , CM000665.1:g.183859830T>G | GRCh37 |
| NC_000003.10:g.185342524T>G | NCBI36 |
| NG_015826.1:g.12021T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000465218.3:n.1297T>G | ||
| ENST00000468748.7:n.1517T>G | ||
| ENST00000484154.2:n.1504T>G | ||
| ENST00000491008.6:n.2022T>G | ||
| ENST00000492226.2:n.1541T>G | ||
| ENST00000492773.6:c.1028T>G | ||
| ENST00000647636.1:c.*123T>G | ENSP00000497505.1:n.*123T>G | |
| ENST00000647909.1:c.1298T>G | ENSP00000498164.1:p.Leu433Arg | |
| ENST00000648145.1:c.1046T>G | ||
| ENST00000648189.1:c.1092T>G | ||
| ENST00000648256.1:c.1246T>G | ENSP00000497356.1:n.1246T>G | |
| ENST00000648314.1:c.*393T>G | ENSP00000496920.1:n.*393T>G | |
| ENST00000648599.1:c.*557T>G | ENSP00000497159.1:n.*557T>G | |
| ENST00000648630.1:c.1153T>G | ENSP00000497887.1:n.1153T>G | |
| ENST00000648682.1:c.*114T>G | ENSP00000498185.1:n.*114T>G | |
| ENST00000648882.1:c.*1100T>G | ENSP00000497603.1:n.*1100T>G | |
| ENST00000648890.1:c.1274T>G | ENSP00000497503.1:p.Leu425Arg | |
| ENST00000648915.2:c.1274T>G MANE Select | ENSP00000497160.1:p.Leu425Arg | |
| ENST00000649545.1:c.695T>G | ||
| ENST00000649688.1:c.*567T>G | ENSP00000497097.1:n.*567T>G | |
| ENST00000649814.1:n.1323T>G | ||
| ENST00000650270.1:c.1141T>G | ||
| ENST00000273783.7:c.1274T>G | ENSP00000273783.3:p.Leu425Arg | |
| ENST00000432982.5:c.246-195T>G | ||
| ENST00000444495.1:c.1274T>G | ENSP00000409142.1:p.Leu425Arg | |
| ENST00000479833.1:n.475T>G | ||
| ENST00000481054.5:n.1368T>G | ||
| ENST00000491144.5:n.1778T>G | ||
| ENST00000492773.5:n.157T>G | ||
| NM_003907.2:c.1274T>G | NP_003898.2:p.Leu425Arg | |
| XM_011513265.1:c.524T>G | XP_011511567.1:p.Leu175Arg | |
| XM_011513266.1:c.437T>G | XP_011511568.1:p.Leu146Arg | |
| XR_924208.1:n.2225T>G | ||
| NM_003907.3:c.1274T>G MANE Select | NP_003898.2:p.Leu425Arg | |
| XM_011513266.3:c.437T>G | XP_011511568.1:p.Leu146Arg | |
| XR_001740352.2:n.1637T>G | ||
| XR_001740353.2:n.1637T>G | ||
| XR_924208.2:n.1637T>G |