Linked Data
ClinVar Variation Id:
787858
ClinVar RCV Id:
RCV000970169
dbSNP Id:
rs2298805
ExAC:
1:159273943 G / A
gnomAD v2:
1-159273943-G-A
gnomAD v3:
1-159304153-G-A
gnomAD v4:
1-159304153-G-A
COSMIC:
COSM3677418
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159304153G>A , CM000663.2:g.159304153G>A | GRCh38 |
| NC_000001.10:g.159273943G>A , CM000663.1:g.159273943G>A | GRCh37 |
| NC_000001.9:g.157540567G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000693622.1:c.302G>A MANE Select | ENSP00000509626.1:p.Ser101Asn | |
| ENST00000368114.1:c.203G>A | ENSP00000357096.1:p.Ser68Asn | |
| ENST00000368115.5:c.302G>A | ENSP00000357097.1:p.Ser101Asn | |
| NM_002001.3:c.302G>A | NP_001992.1:p.Ser101Asn | |
| NM_001387280.1:c.302G>A MANE Select | NP_001374209.1:p.Ser101Asn | |
| NM_001387281.1:c.76+1279G>A | NP_001374210.1:n.76+1279G>A | |
| NM_001387282.1:c.203G>A | NP_001374211.1:p.Ser68Asn | |
| NM_002001.4:c.302G>A | NP_001992.1:p.Ser101Asn |