Linked Data
ClinVar Variation Id:
1626840
ClinVar RCV Id:
RCV002110870
dbSNP Id:
rs1233173376
gnomAD v2:
8-38003623-G-A
gnomAD v3:
8-38146105-G-A
gnomAD v4:
8-38146105-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146105G>A , CM000670.2:g.38146105G>A | GRCh38 |
| NC_000008.10:g.38003623G>A , CM000670.1:g.38003623G>A | GRCh37 |
| NC_000008.9:g.38122780G>A | NCBI36 |
| NG_011827.1:g.9978C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.508C>T MANE Select | ENSP00000276449.3:p.Leu170= | |
| ENST00000276449.8:c.508C>T | ENSP00000276449.3:p.Leu170= | |
| ENST00000520114.1:n.995C>T | ||
| ENST00000522050.1:c.444C>T | ||
| NM_000349.2:c.508C>T | NP_000340.2:p.Leu170= | |
| XM_006716392.1:c.508C>T | XP_006716455.1:p.Leu170= | |
| NM_000349.3:c.508C>T MANE Select | NP_000340.2:p.Leu170= |