Linked Data
ClinVar Variation Id:
765872
ClinVar RCV Id:
RCV000944340
dbSNP Id:
rs754263664
ExAC:
19:7589878 G / A
gnomAD v2:
19-7589878-G-A
gnomAD v3:
19-7524992-G-A
gnomAD v4:
19-7524992-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7524992G>A , CM000681.2:g.7524992G>A | GRCh38 |
| NC_000019.9:g.7589878G>A , CM000681.1:g.7589878G>A | GRCh37 |
| NC_000019.8:g.7495878G>A | NCBI36 |
| NG_015806.1:g.7383G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.63G>A MANE Select | ENSP00000264079.5:p.Gly21= | |
| ENST00000264079.10:c.63G>A | ENSP00000264079.5:p.Gly21= | |
| ENST00000394321.9:n.143G>A | ||
| ENST00000596390.1:n.179G>A | ||
| ENST00000601003.1:c.63G>A | ENSP00000469074.1:p.Gly21= | |
| NM_020533.2:c.63G>A | NP_065394.1:p.Gly21= | |
| NM_020533.3:c.63G>A MANE Select | NP_065394.1:p.Gly21= |