Linked Data
ClinVar Variation Id:
139158
ClinVar RCV Id:
RCV001725996
RCV002312939
RCV003445525
RCV003445526
RCV003445527
RCV003445528
RCV003445529
dbSNP Id:
rs115541691
ExAC:
1:43396306 G / A
gnomAD v2:
1-43396306-G-A
gnomAD v3:
1-42930635-G-A
gnomAD v4:
1-42930635-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42930635G>A , CM000663.2:g.42930635G>A | GRCh38 |
| NC_000001.10:g.43396306G>A , CM000663.1:g.43396306G>A | GRCh37 |
| NC_000001.9:g.43168893G>A | NCBI36 |
| NG_008232.1:g.33542C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426263.10:c.507C>T MANE Select | ENSP00000416293.2:p.Leu169= | |
| ENST00000674765.1:c.507C>T | ENSP00000501811.1:p.Leu169= | |
| ENST00000675112.1:n.530C>T | ||
| ENST00000676254.1:n.956C>T | ||
| ENST00000426263.7:c.507C>T | ENSP00000416293.2:p.Leu169= | |
| ENST00000439722.2:c.386C>T | ENSP00000395521.2:n.386C>T | |
| ENST00000475162.3:c.406C>T | ||
| ENST00000625233.2:n.715C>T | ||
| ENST00000630287.2:c.507C>T | ENSP00000486694.1:p.Leu169= | |
| NM_006516.2:c.507C>T | NP_006507.2:p.Leu169= | |
| NM_006516.3:c.507C>T | NP_006507.2:p.Leu169= | |
| NM_006516.4:c.507C>T MANE Select | NP_006507.2:p.Leu169= |