Linked Data
ClinVar Variation Id:
9809
ClinVar RCV Id:
RCV000010483
dbSNP Id:
rs137852584
COSMIC:
COSM5945742
PubMed:
PMID:7723794
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67711459G>A , CM000685.2:g.67711459G>A | GRCh38 |
| NC_000023.10:g.66931301G>A , CM000685.1:g.66931301G>A | GRCh37 |
| NC_000023.9:g.66848026G>A | NCBI36 |
| NG_009014.2:g.172428G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396043.4:c.*291G>A | ENSP00000379358.4:n.*291G>A | |
| ENST00000374690.9:c.1943G>A MANE Select | ENSP00000363822.3:p.Ser648Asn | |
| ENST00000396043.3:c.570G>A | ENSP00000379358.3:n.570G>A | |
| ENST00000396044.8:c.1943G>A | ENSP00000379359.3:p.Ser648Asn | |
| ENST00000612452.5:c.1943G>A | ENSP00000484033.2:p.Ser648Asn | |
| ENST00000374690.7:c.1943G>A | ENSP00000363822.3:p.Ser648Asn | |
| ENST00000396043.2:c.347G>A | ENSP00000379358.2:p.Ser116Asn | |
| ENST00000396044.7:c.1943G>A | ENSP00000379359.3:p.Ser648Asn | |
| ENST00000612452.4:c.1373G>A | ENSP00000484033.1:p.Ser458Asn | |
| NM_000044.3:c.1943G>A | NP_000035.2:p.Ser648Asn | |
| NM_001011645.2:c.347G>A | NP_001011645.1:p.Ser116Asn | |
| NM_000044.4:c.1943G>A | NP_000035.2:p.Ser648Asn | |
| NM_001011645.3:c.347G>A | NP_001011645.1:p.Ser116Asn | |
| NM_000044.6:c.1943G>A MANE Select | NP_000035.2:p.Ser648Asn |