Linked Data
ClinVar Variation Id:
397590
ClinVar RCV Id:
RCV000449564
dbSNP Id:
rs200529020
ExAC:
10:99358651 G / A
gnomAD v2:
10-99358651-G-A
gnomAD v3:
10-97598894-G-A
gnomAD v4:
10-97598894-G-A
COSMIC:
COSM1578917
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97598894G>A , CM000672.2:g.97598894G>A | GRCh38 |
| NC_000010.10:g.99358651G>A , CM000672.1:g.99358651G>A | GRCh37 |
| NC_000010.9:g.99348641G>A | NCBI36 |
| NG_027922.1:g.19550G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370646.9:c.331G>A MANE Select | ENSP00000359680.4:p.Gly111Arg | |
| ENST00000370646.8:c.331G>A | ENSP00000359680.4:p.Gly111Arg | |
| ENST00000370647.8:c.212-2963G>A | ENSP00000359681.4:n.212-2963G>A | |
| ENST00000370649.3:c.212-2963G>A | ENSP00000359683.3:n.212-2963G>A | |
| ENST00000465608.1:n.712G>A | ||
| NM_001134670.1:c.212-2963G>A | NP_001128142.1:n.212-2963G>A | |
| NM_138413.3:c.331G>A | NP_612422.2:p.Gly111Arg | |
| NM_138413.4:c.331G>A MANE Select | NP_612422.2:p.Gly111Arg | |
| NM_001134670.2:c.212-2963G>A | NP_001128142.1:n.212-2963G>A |