Linked Data
ClinVar Variation Id:
1592237
ClinVar RCV Id:
RCV002111612
dbSNP Id:
rs1053284504
gnomAD v2:
8-38003676-A-G
gnomAD v4:
8-38146158-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146158A>G , CM000670.2:g.38146158A>G | GRCh38 |
| NC_000008.10:g.38003676A>G , CM000670.1:g.38003676A>G | GRCh37 |
| NC_000008.9:g.38122833A>G | NCBI36 |
| NG_011827.1:g.9925T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.466-11T>C MANE Select | ENSP00000276449.3:n.466-11T>C | |
| ENST00000276449.8:c.466-11T>C | ENSP00000276449.3:n.466-11T>C | |
| ENST00000520114.1:n.953-11T>C | ||
| ENST00000522050.1:c.402-11T>C | ||
| NM_000349.2:c.466-11T>C | NP_000340.2:n.466-11T>C | |
| XM_006716392.1:c.466-11T>C | XP_006716455.1:n.466-11T>C | |
| NM_000349.3:c.466-11T>C MANE Select | NP_000340.2:n.466-11T>C |