Linked Data
ClinVar Variation Id:
894563
dbSNP Id:
rs369431026
ExAC:
19:7592841 G / A
gnomAD v2:
19-7592841-G-A
gnomAD v3:
19-7527955-G-A
gnomAD v4:
19-7527955-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527955G>A , CM000681.2:g.7527955G>A | GRCh38 |
| NC_000019.9:g.7592841G>A , CM000681.1:g.7592841G>A | GRCh37 |
| NC_000019.8:g.7498841G>A | NCBI36 |
| NG_015806.1:g.10346G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.772G>A MANE Select | ENSP00000264079.5:p.Val258Ile | |
| ENST00000264079.10:c.772G>A | ENSP00000264079.5:p.Val258Ile | |
| ENST00000394321.9:n.1087G>A | ||
| NM_020533.2:c.772G>A | NP_065394.1:p.Val258Ile | |
| NM_020533.3:c.772G>A MANE Select | NP_065394.1:p.Val258Ile |