Linked Data
ClinVar Variation Id:
7640
ClinVar RCV Id:
RCV000008079
dbSNP Id:
rs121909126
ExAC:
1:226125217 C / T
gnomAD v2:
1-226125217-C-T
gnomAD v3:
1-225937517-C-T
gnomAD v4:
1-225937517-C-T
PubMed:
PMID:10053005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225937517C>T , CM000663.2:g.225937517C>T | GRCh38 |
| NC_000001.10:g.226125217C>T , CM000663.1:g.226125217C>T | GRCh37 |
| NC_000001.9:g.224191840C>T | NCBI36 |
| NG_008118.1:g.8704G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366820.10:c.1025G>A MANE Select | ENSP00000355785.5:p.Ser342Asn | |
| ENST00000366820.9:c.1025G>A | ENSP00000355785.5:p.Ser342Asn | |
| ENST00000420304.6:c.923G>A | ENSP00000388009.2:p.Ser308Asn | |
| ENST00000616737.1:c.1025G>A | ENSP00000484300.1:p.Ser342Asn | |
| NM_001172425.1:c.923G>A | NP_001165896.1:p.Ser308Asn | |
| NM_003240.3:c.1025G>A | NP_003231.2:p.Ser342Asn | |
| NM_001172425.2:c.923G>A | NP_001165896.1:p.Ser308Asn | |
| NM_003240.4:c.1025G>A | NP_003231.2:p.Ser342Asn | |
| NM_003240.5:c.1025G>A MANE Select | NP_003231.2:p.Ser342Asn | |
| NM_001172425.3:c.923G>A | NP_001165896.1:p.Ser308Asn |