Linked Data
ClinVar Variation Id:
2189629
ClinVar RCV Id:
RCV002611702
dbSNP Id:
rs370562001
ExAC:
1:230814672 G / A
gnomAD v2:
1-230814672-G-A
gnomAD v3:
1-230678926-G-A
gnomAD v4:
1-230678926-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230678926G>A , CM000663.2:g.230678926G>A | GRCh38 |
| NC_000001.10:g.230814672G>A , CM000663.1:g.230814672G>A | GRCh37 |
| NC_000001.9:g.228881295G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366669.9:c.1040G>A MANE Select | ENSP00000355629.4:p.Ser347Asn | |
| ENST00000366668.7:c.1040G>A | ENSP00000355628.3:p.Ser347Asn | |
| ENST00000366669.8:c.1040G>A | ENSP00000355629.4:p.Ser347Asn | |
| ENST00000468893.6:c.*898G>A | ENSP00000476305.1:n.*898G>A | |
| ENST00000494371.5:n.3334G>A | ||
| ENST00000534989.1:c.863G>A | ENSP00000440349.1:p.Ser288Asn | |
| NM_001145036.1:c.1040G>A | NP_001138508.1:p.Ser347Asn | |
| NM_007357.2:c.1040G>A | NP_031383.1:p.Ser347Asn | |
| NM_007357.3:c.1040G>A MANE Select | NP_031383.1:p.Ser347Asn | |
| NM_001145036.2:c.1040G>A | NP_001138508.1:p.Ser347Asn |