Linked Data
ClinVar Variation Id:
1402754
ClinVar RCV Id:
RCV001925204
dbSNP Id:
rs1429074293
gnomAD v2:
1-12025633-G-T
gnomAD v4:
1-11965576-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965576G>T , CM000663.2:g.11965576G>T | GRCh38 |
| NC_000001.10:g.12025633G>T , CM000663.1:g.12025633G>T | GRCh37 |
| NC_000001.9:g.11948220G>T | NCBI36 |
| NG_008159.1:g.35888G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1567G>T MANE Select | ENSP00000196061.4:p.Val523Leu | |
| ENST00000196061.4:c.1567G>T | ENSP00000196061.4:p.Val523Leu | |
| ENST00000470133.1:n.181G>T | ||
| ENST00000491536.5:n.195G>T | ||
| NM_000302.3:c.1567G>T | NP_000293.2:p.Val523Leu | |
| NM_001316320.1:c.1708G>T | NP_001303249.1:p.Val570Leu | |
| XM_011541594.1:c.1648G>T | XP_011539896.1:p.Val550Leu | |
| XM_024447707.1:c.901G>T | XP_024303475.1:p.Val301Leu | |
| NM_000302.4:c.1567G>T MANE Select | NP_000293.2:p.Val523Leu | |
| NM_001316320.2:c.1708G>T | NP_001303249.1:p.Val570Leu |