Linked Data
ClinVar Variation Id:
1330340
ClinVar RCV Id:
RCV001803433
dbSNP Id:
rs2143090512
gnomAD v4:
17-47283550-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47283550G>A , CM000679.2:g.47283550G>A | GRCh38 |
| NC_000017.10:g.45360916G>A , CM000679.1:g.45360916G>A | GRCh37 |
| NC_000017.9:g.42715915G>A | NCBI36 |
| NG_008332.2:g.34709G>A , LRG_481:g.34709G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.361+1G>A | ENSP00000513002.1:n.361+1G>A | |
| ENST00000559488.7:c.361+1G>A MANE Select | ENSP00000452786.2:n.361+1G>A | |
| ENST00000559488.5:c.361+1G>A | ENSP00000452786.1:n.361+1G>A | |
| ENST00000560629.1:c.326+1G>A | ||
| ENST00000571680.1:c.361+1G>A | ENSP00000461626.1:n.361+1G>A | |
| NM_000212.2:c.361+1G>A , LRG_481t1:c.361+1G>A | NP_000203.2:n.361+1G>A | |
| NM_000212.3:c.361+1G>A MANE Select | NP_000203.2:n.361+1G>A |