Linked Data
ClinVar Variation Id:
1066635
ClinVar RCV Id:
RCV002246352
dbSNP Id:
rs781614031
gnomAD v3:
8-19954125-G-A
gnomAD v4:
8-19954125-G-A
COSMIC:
COSM1097854
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954125G>A , CM000670.2:g.19954125G>A | GRCh38 |
| NC_000008.10:g.19811636G>A , CM000670.1:g.19811636G>A | GRCh37 |
| NC_000008.9:g.19855916G>A | NCBI36 |
| NG_008855.1:g.20055G>A | |
| NG_008855.2:g.57409G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.547G>A MANE Select | ENSP00000497642.1:p.Asp183Asn | |
| ENST00000311322.8:c.547G>A | ENSP00000309757.6:p.Asp183Asn | |
| ENST00000520959.5:c.319G>A | ENSP00000428496.1:p.Asp107Asn | |
| NM_000237.2:c.547G>A | NP_000228.1:p.Asp183Asn | |
| NM_000237.3:c.547G>A MANE Select | NP_000228.1:p.Asp183Asn |