Linked Data
ClinVar Variation Id:
330272
dbSNP Id:
rs748416799
ExAC:
19:6678151 G / T
gnomAD v2:
19-6678151-G-T
gnomAD v3:
19-6678140-G-T
gnomAD v4:
19-6678140-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6678140G>T , CM000681.2:g.6678140G>T | GRCh38 |
| NC_000019.9:g.6678151G>T , CM000681.1:g.6678151G>T | GRCh37 |
| NC_000019.8:g.6629151G>T | NCBI36 |
| NG_009557.1:g.47512C>A , LRG_27:g.47512C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.3198+12C>A | ||
| ENST00000695653.1:c.2759+12C>A | ENSP00000512084.1:n.2759+12C>A | |
| ENST00000695654.1:c.3875+12C>A | ENSP00000512085.1:n.3875+12C>A | |
| ENST00000695689.1:c.821+12C>A | ENSP00000512101.1:n.821+12C>A | |
| ENST00000695690.1:n.1915+12C>A | ||
| ENST00000695691.1:n.1711+12C>A | ||
| ENST00000245907.11:c.4850+12C>A MANE Select | ENSP00000245907.4:n.4850+12C>A | |
| ENST00000245907.10:c.4850+12C>A | ENSP00000245907.4:n.4850+12C>A | |
| ENST00000599668.1:n.470+12C>A | ||
| ENST00000599899.5:n.1809+12C>A | ||
| ENST00000601008.1:c.242-182C>A | ENSP00000471384.1:n.242-182C>A | |
| ENST00000601475.1:n.179+12C>A | ||
| ENST00000602229.1:c.309C>A | ||
| NM_000064.3:c.4850+12C>A | NP_000055.2:n.4850+12C>A | |
| NM_000064.4:c.4850+12C>A MANE Select | NP_000055.2:n.4850+12C>A |