Linked Data
ClinVar Variation Id:
1320581
ClinVar RCV Id:
RCV001776560
RCV001868808
RCV003446911
RCV003446912
RCV003446913
RCV003446914
RCV003446915
dbSNP Id:
rs1085308009
gnomAD v4:
1-42930029-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42930029C>T , CM000663.2:g.42930029C>T | GRCh38 |
| NC_000001.10:g.43395700C>T , CM000663.1:g.43395700C>T | GRCh37 |
| NC_000001.9:g.43168287C>T | NCBI36 |
| NG_008232.1:g.34148G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426263.10:c.523G>A MANE Select | ENSP00000416293.2:p.Gly175Ser | |
| ENST00000674765.1:c.523G>A | ENSP00000501811.1:p.Gly175Ser | |
| ENST00000675112.1:n.546G>A | ||
| ENST00000676254.1:n.972G>A | ||
| ENST00000426263.7:c.523G>A | ENSP00000416293.2:p.Gly175Ser | |
| ENST00000439722.2:c.402G>A | ENSP00000395521.2:n.402G>A | |
| ENST00000475162.3:c.415+597G>A | ||
| ENST00000630287.2:c.517-249G>A | ENSP00000486694.1:n.517-249G>A | |
| NM_006516.2:c.523G>A | NP_006507.2:p.Gly175Ser | |
| NM_006516.3:c.523G>A | NP_006507.2:p.Gly175Ser | |
| NM_006516.4:c.523G>A MANE Select | NP_006507.2:p.Gly175Ser |