Linked Data
ClinVar Variation Id:
17830
dbSNP Id:
rs104894326
ExAC:
12:50344803 G / A
gnomAD v2:
12-50344803-G-A
gnomAD v4:
12-49951020-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49951020G>A , CM000674.2:g.49951020G>A | GRCh38 |
| NC_000012.11:g.50344803G>A , CM000674.1:g.50344803G>A | GRCh37 |
| NC_000012.10:g.48631070G>A | NCBI36 |
| NG_008913.1:g.5280G>A , LRG_717:g.5280G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000199280.4:c.190G>A MANE Select | ENSP00000199280.3:p.Gly64Arg | |
| ENST00000199280.3:c.190G>A | ENSP00000199280.3:p.Gly64Arg | |
| ENST00000550862.1:c.190G>A | ENSP00000450022.1:p.Gly64Arg | |
| ENST00000551526.5:c.190G>A | ENSP00000447148.1:p.Gly64Arg | |
| NM_000486.5:c.190G>A , LRG_717t1:c.190G>A | NP_000477.1:p.Gly64Arg | |
| NM_000486.6:c.190G>A MANE Select | NP_000477.1:p.Gly64Arg |