Linked Data
ClinVar Variation Id:
710771
ClinVar RCV Id:
RCV000882417
dbSNP Id:
rs373636467
ExAC:
19:7592398 G / A
gnomAD v2:
19-7592398-G-A
gnomAD v3:
19-7527512-G-A
gnomAD v4:
19-7527512-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527512G>A , CM000681.2:g.7527512G>A | GRCh38 |
| NC_000019.9:g.7592398G>A , CM000681.1:g.7592398G>A | GRCh37 |
| NC_000019.8:g.7498398G>A | NCBI36 |
| NG_015806.1:g.9903G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.572-8G>A MANE Select | ENSP00000264079.5:n.572-8G>A | |
| ENST00000264079.10:c.572-8G>A | ENSP00000264079.5:n.572-8G>A | |
| ENST00000394321.9:n.652-8G>A | ||
| ENST00000598406.1:n.393-8G>A | ||
| ENST00000601003.1:c.572-352G>A | ENSP00000469074.1:n.572-352G>A | |
| NM_020533.2:c.572-8G>A | NP_065394.1:n.572-8G>A | |
| NM_020533.3:c.572-8G>A MANE Select | NP_065394.1:n.572-8G>A |