Linked Data
ClinVar Variation Id:
101043
ClinVar RCV Id:
RCV000087301
dbSNP Id:
rs587777184
gnomAD v4:
19-7540675-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7540675G>A , CM000681.2:g.7540675G>A | GRCh38 |
| NC_000019.9:g.7605561G>A , CM000681.1:g.7605561G>A | GRCh37 |
| NC_000019.8:g.7511561G>A | NCBI36 |
| NG_013374.1:g.11524G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.760G>A MANE Select | ENSP00000473211.1:p.Val254Ile | |
| ENST00000221249.10:c.643G>A | ENSP00000221249.5:p.Val215Ile | |
| ENST00000414982.7:c.787G>A | ENSP00000407509.2:p.Val263Ile | |
| ENST00000450331.7:c.643G>A | ENSP00000394348.2:p.Val215Ile | |
| ENST00000545201.6:c.643G>A | ENSP00000443323.1:p.Val215Ile | |
| ENST00000594551.1:c.227G>A | ||
| ENST00000595264.5:c.282G>A | ||
| ENST00000598462.1:n.551G>A | ||
| ENST00000600737.5:c.760G>A | ENSP00000473211.1:p.Val254Ile | |
| NM_001166111.1:c.787G>A | NP_001159583.1:p.Val263Ile | |
| NM_001166112.1:c.643G>A | NP_001159584.1:p.Val215Ile | |
| NM_001166113.1:c.643G>A | NP_001159585.1:p.Val215Ile | |
| NM_001166114.1:c.760G>A | NP_001159586.1:p.Val254Ile | |
| NM_006702.4:c.643G>A | NP_006693.3:p.Val215Ile | |
| NM_001166111.2:c.787G>A | NP_001159583.1:p.Val263Ile | |
| NM_001166114.2:c.760G>A MANE Select | NP_001159586.1:p.Val254Ile | |
| NM_006702.5:c.643G>A | NP_006693.3:p.Val215Ile | |
| NM_001166112.2:c.643G>A | NP_001159584.1:p.Val215Ile |