Linked Data
ClinVar Variation Id:
1383462
ClinVar RCV Id:
RCV001892612
dbSNP Id:
rs544858538
ExAC:
19:6697698 C / T
gnomAD v2:
19-6697698-C-T
gnomAD v3:
19-6697687-C-T
gnomAD v4:
19-6697687-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697687C>T , CM000681.2:g.6697687C>T | GRCh38 |
| NC_000019.9:g.6697698C>T , CM000681.1:g.6697698C>T | GRCh37 |
| NC_000019.8:g.6648698C>T | NCBI36 |
| NG_009557.1:g.27965G>A , LRG_27:g.27965G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.896G>A | ||
| ENST00000695652.1:c.2425G>A | ENSP00000512083.1:p.Val809Ile | |
| ENST00000695653.1:c.457G>A | ENSP00000512084.1:p.Val153Ile | |
| ENST00000695654.1:c.1672G>A | ENSP00000512085.1:p.Val558Ile | |
| ENST00000695655.1:c.1489G>A | ENSP00000512086.1:n.1489G>A | |
| ENST00000695692.1:n.1912G>A | ||
| ENST00000245907.11:c.2548G>A MANE Select | ENSP00000245907.4:p.Val850Ile | |
| ENST00000245907.10:c.2548G>A | ENSP00000245907.4:p.Val850Ile | |
| ENST00000594005.1:n.29G>A | ||
| ENST00000602053.1:n.596G>A | ||
| NM_000064.3:c.2548G>A | NP_000055.2:p.Val850Ile | |
| NM_000064.4:c.2548G>A MANE Select | NP_000055.2:p.Val850Ile |