Linked Data
ClinVar Variation Id:
479
dbSNP Id:
rs104894275
ExAC:
11:112099388 A / G
gnomAD v2:
11-112099388-A-G
gnomAD v3:
11-112228665-A-G
gnomAD v4:
11-112228665-A-G
PubMed:
PMID:9450907
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112228665A>G , CM000673.2:g.112228665A>G | GRCh38 |
| NC_000011.9:g.112099388A>G , CM000673.1:g.112099388A>G | GRCh37 |
| NC_000011.8:g.111604598A>G | NCBI36 |
| NG_008743.1:g.7301A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280362.8:c.155A>G MANE Select | ENSP00000280362.3:p.Asn52Ser | |
| ENST00000280362.7:c.155A>G | ENSP00000280362.3:p.Asn52Ser | |
| ENST00000524931.1:c.-50A>G | ENSP00000434688.1:n.-50A>G | |
| ENST00000525645.1:n.230A>G | ||
| ENST00000525803.1:c.155A>G | ENSP00000431750.1:p.Asn52Ser | |
| ENST00000528679.5:c.155A>G | ENSP00000435895.1:p.Asn52Ser | |
| ENST00000531673.5:c.155A>G | ENSP00000433469.1:p.Asn52Ser | |
| NM_000317.2:c.155A>G | NP_000308.1:p.Asn52Ser | |
| NM_000317.3:c.155A>G MANE Select | NP_000308.1:p.Asn52Ser |