Linked Data
ClinVar Variation Id:
1563830
ClinVar RCV Id:
RCV002209525
dbSNP Id:
rs1291206741
gnomAD v2:
8-38003660-C-T
gnomAD v3:
8-38146142-C-T
gnomAD v4:
8-38146142-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146142C>T , CM000670.2:g.38146142C>T | GRCh38 |
| NC_000008.10:g.38003660C>T , CM000670.1:g.38003660C>T | GRCh37 |
| NC_000008.9:g.38122817C>T | NCBI36 |
| NG_011827.1:g.9941G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.471G>A MANE Select | ENSP00000276449.3:p.Leu157= | |
| ENST00000276449.8:c.471G>A | ENSP00000276449.3:p.Leu157= | |
| ENST00000520114.1:n.958G>A | ||
| ENST00000522050.1:c.407G>A | ||
| NM_000349.2:c.471G>A | NP_000340.2:p.Leu157= | |
| XM_006716392.1:c.471G>A | XP_006716455.1:p.Leu157= | |
| NM_000349.3:c.471G>A MANE Select | NP_000340.2:p.Leu157= |