Linked Data
ClinVar Variation Id:
1306891
ClinVar RCV Id:
RCV001771071
dbSNP Id:
rs771305132
ExAC:
19:6697719 C / T
gnomAD v2:
19-6697719-C-T
gnomAD v4:
19-6697708-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697708C>T , CM000681.2:g.6697708C>T | GRCh38 |
| NC_000019.9:g.6697719C>T , CM000681.1:g.6697719C>T | GRCh37 |
| NC_000019.8:g.6648719C>T | NCBI36 |
| NG_009557.1:g.27944G>A , LRG_27:g.27944G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.875G>A | ||
| ENST00000695652.1:c.2404G>A | ENSP00000512083.1:p.Glu802Lys | |
| ENST00000695653.1:c.436G>A | ENSP00000512084.1:p.Glu146Lys | |
| ENST00000695654.1:c.1651G>A | ENSP00000512085.1:p.Glu551Lys | |
| ENST00000695655.1:c.1468G>A | ENSP00000512086.1:n.1468G>A | |
| ENST00000695692.1:n.1891G>A | ||
| ENST00000245907.11:c.2527G>A MANE Select | ENSP00000245907.4:p.Glu843Lys | |
| ENST00000245907.10:c.2527G>A | ENSP00000245907.4:p.Glu843Lys | |
| ENST00000594005.1:n.8G>A | ||
| ENST00000602053.1:n.575G>A | ||
| NM_000064.3:c.2527G>A | NP_000055.2:p.Glu843Lys | |
| NM_000064.4:c.2527G>A MANE Select | NP_000055.2:p.Glu843Lys |