Linked Data
ClinVar Variation Id:
630403
ClinVar RCV Id:
RCV000775667
dbSNP Id:
rs550247306
gnomAD v3:
1-55063552-C-A
gnomAD v4:
1-55063552-C-A
COSMIC:
COSM6191841
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063552C>A , CM000663.2:g.55063552C>A | GRCh38 |
| NC_000001.10:g.55529225C>A , CM000663.1:g.55529225C>A | GRCh37 |
| NC_000001.9:g.55301813C>A | NCBI36 |
| NG_009061.1:g.29006C>A , LRG_275:g.29006C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*387C>A | ENSP00000501161.2:n.*387C>A | |
| ENST00000710286.1:c.2404C>A | ENSP00000518176.1:p.His802Asn | |
| ENST00000673903.1:c.1672C>A | ENSP00000501257.1:p.His558Asn | |
| ENST00000302118.5:c.2047C>A MANE Select | ENSP00000303208.5:p.His683Asn | |
| ENST00000490692.1:n.2593C>A | ||
| NM_174936.3:c.2047C>A , LRG_275t1:c.2047C>A | NP_777596.2:p.His683Asn | |
| NR_110451.1:n.1654C>A | ||
| XM_011541193.1:c.1168C>A | XP_011539495.1:p.His390Asn | |
| NM_174936.4:c.2047C>A MANE Select | NP_777596.2:p.His683Asn | |
| NR_110451.2:n.1654C>A |