Linked Data
ClinVar Variation Id:
1096742
ClinVar RCV Id:
RCV001418093
dbSNP Id:
rs748243874
ExAC:
8:38003642 A / G
gnomAD v2:
8-38003642-A-G
gnomAD v4:
8-38146124-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146124A>G , CM000670.2:g.38146124A>G | GRCh38 |
| NC_000008.10:g.38003642A>G , CM000670.1:g.38003642A>G | GRCh37 |
| NC_000008.9:g.38122799A>G | NCBI36 |
| NG_011827.1:g.9959T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.489T>C MANE Select | ENSP00000276449.3:p.Asp163= | |
| ENST00000276449.8:c.489T>C | ENSP00000276449.3:p.Asp163= | |
| ENST00000520114.1:n.976T>C | ||
| ENST00000522050.1:c.425T>C | ||
| NM_000349.2:c.489T>C | NP_000340.2:p.Asp163= | |
| XM_006716392.1:c.489T>C | XP_006716455.1:p.Asp163= | |
| NM_000349.3:c.489T>C MANE Select | NP_000340.2:p.Asp163= |