Linked Data
ClinVar Variation Id:
1470830
ClinVar RCV Id:
RCV001973365
dbSNP Id:
rs752196151
gnomAD v2:
19-6684852-A-T
gnomAD v4:
19-6684841-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6684841A>T , CM000681.2:g.6684841A>T | GRCh38 |
| NC_000019.9:g.6684852A>T , CM000681.1:g.6684852A>T | GRCh37 |
| NC_000019.8:g.6635852A>T | NCBI36 |
| NG_009557.1:g.40811T>A , LRG_27:g.40811T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2318-7T>A | ||
| ENST00000695653.1:c.1879-7T>A | ENSP00000512084.1:n.1879-7T>A | |
| ENST00000695654.1:c.2995-7T>A | ENSP00000512085.1:n.2995-7T>A | |
| ENST00000695690.1:n.161-7T>A | ||
| ENST00000695691.1:n.161-7T>A | ||
| ENST00000245907.11:c.3970-7T>A MANE Select | ENSP00000245907.4:n.3970-7T>A | |
| ENST00000245907.10:c.3970-7T>A | ENSP00000245907.4:n.3970-7T>A | |
| ENST00000596238.1:n.413-7T>A | ||
| ENST00000596548.1:c.52-7T>A | ENSP00000469744.1:n.52-7T>A | |
| ENST00000601008.1:c.241+1905T>A | ENSP00000471384.1:n.241+1905T>A | |
| NM_000064.3:c.3970-7T>A | NP_000055.2:n.3970-7T>A | |
| NM_000064.4:c.3970-7T>A MANE Select | NP_000055.2:n.3970-7T>A |