Linked Data
ClinVar Variation Id:
1304066
ClinVar RCV Id:
RCV001751833
RCV002539910
RCV003389073
RCV003446885
RCV003446888
RCV003446886
RCV003446887
dbSNP Id:
rs1027810691
gnomAD v2:
1-43393362-C-T
gnomAD v3:
1-42927691-C-T
gnomAD v4:
1-42927691-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42927691C>T , CM000663.2:g.42927691C>T | GRCh38 |
| NC_000001.10:g.43393362C>T , CM000663.1:g.43393362C>T | GRCh37 |
| NC_000001.9:g.43165949C>T | NCBI36 |
| NG_008232.1:g.36486G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.1192G>A MANE Select | ENSP00000416293.2:p.Gly398Ser | |
| ENST00000674545.1:n.1809G>A | ||
| ENST00000674765.1:c.1030-834G>A | ENSP00000501811.1:n.1030-834G>A | |
| ENST00000675112.1:n.1493G>A | ||
| ENST00000676254.1:n.1641G>A | ||
| ENST00000426263.7:c.1192G>A | ENSP00000416293.2:p.Gly398Ser | |
| ENST00000475162.3:c.416-713G>A | ||
| ENST00000630287.2:c.*507G>A | ENSP00000486694.1:n.*507G>A | |
| NM_006516.2:c.1192G>A | NP_006507.2:p.Gly398Ser | |
| NM_006516.3:c.1192G>A | NP_006507.2:p.Gly398Ser | |
| NM_006516.4:c.1192G>A MANE Select | NP_006507.2:p.Gly398Ser |