Linked Data
ClinVar Variation Id:
2883488
ClinVar RCV Id:
RCV003642459
dbSNP Id:
rs547265904
ExAC:
10:12149893 G / A
gnomAD v2:
10-12149893-G-A
gnomAD v3:
10-12107894-G-A
gnomAD v4:
10-12107894-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12107894G>A , CM000672.2:g.12107894G>A | GRCh38 |
| NC_000010.10:g.12149893G>A , CM000672.1:g.12149893G>A | GRCh37 |
| NC_000010.9:g.12189899G>A | NCBI36 |
| NG_033248.1:g.43978G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263035.9:c.2048-15G>A MANE Select | ENSP00000263035.4:n.2048-15G>A | |
| ENST00000263035.8:c.2048-15G>A | ENSP00000263035.4:n.2048-15G>A | |
| ENST00000448829.1:c.551-15G>A | ||
| NM_018706.6:c.2048-15G>A | NP_061176.3:n.2048-15G>A | |
| NM_018706.7:c.2048-15G>A MANE Select | NP_061176.4:n.2048-15G>A |