Linked Data
ClinVar Variation Id:
1468294
dbSNP Id:
rs376245118
gnomAD v3:
4-87663268-A-T
gnomAD v4:
4-87663268-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87663268A>T , CM000666.2:g.87663268A>T | GRCh38 |
| NC_000004.11:g.88584420A>T , CM000666.1:g.88584420A>T | GRCh37 |
| NC_000004.10:g.88803444A>T | NCBI36 |
| NG_008988.1:g.17967A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282479.8:c.1442A>T | ENSP00000282479.6:p.His481Leu | |
| ENST00000682752.1:c.*1401A>T | ENSP00000507436.1:n.*1401A>T | |
| ENST00000682781.1:n.1567A>T | ||
| ENST00000683764.1:n.1762A>T | ||
| ENST00000684240.1:n.1653A>T | ||
| ENST00000684389.1:n.1614A>T | ||
| ENST00000339673.11:c.1490A>T MANE Select | ENSP00000340935.6:p.His497Leu | |
| ENST00000282479.7:c.1442A>T | ENSP00000282479.6:p.His481Leu | |
| ENST00000339673.10:c.1490A>T | ENSP00000340935.6:p.His497Leu | |
| NM_001079911.2:c.1442A>T | NP_001073380.1:p.His481Leu | |
| NM_004407.3:c.1490A>T | NP_004398.1:p.His497Leu | |
| XM_011531705.1:c.1577A>T | XP_011530007.1:p.His526Leu | |
| XM_011531706.1:c.1529A>T | XP_011530008.1:p.His510Leu | |
| XR_938960.1:n.115-5859T>A | ||
| XM_011531705.2:c.1577A>T | XP_011530007.1:p.His526Leu | |
| XM_011531706.2:c.1529A>T | XP_011530008.1:p.His510Leu | |
| XR_938960.2:n.115-5859T>A | ||
| NM_001079911.3:c.1442A>T | NP_001073380.1:p.His481Leu | |
| NM_004407.4:c.1490A>T MANE Select | NP_004398.1:p.His497Leu |