Linked Data
ClinVar Variation Id:
1342080
ClinVar RCV Id:
RCV001837670
dbSNP Id:
rs1064795231
gnomAD v2:
16-90001704-G-A
gnomAD v4:
16-89935296-G-A
COSMIC:
COSM6329820
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89935296G>A , CM000678.2:g.89935296G>A | GRCh38 |
| NC_000016.9:g.90001704G>A , CM000678.1:g.90001704G>A | GRCh37 |
| NC_000016.8:g.88529205G>A | NCBI36 |
| NG_027810.1:g.18288G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315491.12:c.845G>A MANE Select | ENSP00000320295.7:p.Arg282Gln | |
| ENST00000680788.1:n.4266G>A | ||
| ENST00000315491.11:c.845G>A | ENSP00000320295.7:p.Arg282Gln | |
| ENST00000554444.5:c.629G>A | ENSP00000451617.1:p.Arg210Gln | |
| ENST00000555576.5:c.277+1718G>A | ENSP00000452554.1:n.277+1718G>A | |
| ENST00000555609.5:c.*930G>A | ENSP00000451276.1:n.*930G>A | |
| ENST00000556922.1:c.1886G>A | ENSP00000451560.1:p.Arg629Gln | |
| NM_001197181.1:c.629G>A | NP_001184110.1:p.Arg210Gln | |
| NM_006086.3:c.845G>A | NP_006077.2:p.Arg282Gln | |
| NM_006086.4:c.845G>A MANE Select | NP_006077.2:p.Arg282Gln | |
| NM_001197181.2:c.629G>A | NP_001184110.1:p.Arg210Gln |