Linked Data
ClinVar Variation Id:
1664243
ClinVar RCV Id:
RCV002200782
dbSNP Id:
rs372189215
gnomAD v2:
20-744126-C-T
gnomAD v3:
20-763482-C-T
gnomAD v4:
20-763482-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.763482C>T , CM000682.2:g.763482C>T | GRCh38 |
| NC_000020.10:g.744126C>T , CM000682.1:g.744126C>T | GRCh37 |
| NC_000020.9:g.692126C>T | NCBI36 |
| NG_027687.1:g.10103G>A | |
| NG_027687.2:g.17504G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381944.5:c.1073+16G>A | ENSP00000371370.3:n.1073+16G>A | |
| ENST00000473664.2:c.568-1658G>A | ENSP00000502741.1:n.568-1658G>A | |
| ENST00000488495.3:c.1073+16G>A | ENSP00000494009.1:n.1073+16G>A | |
| ENST00000645534.1:c.1073+16G>A MANE Select | ENSP00000494193.1:n.1073+16G>A | |
| ENST00000675066.1:c.1089G>A | ENSP00000501902.1:p.Trp363Ter | |
| ENST00000217254.11:c.1073+16G>A | ENSP00000217254.7:n.1073+16G>A | |
| ENST00000381944.4:c.1073+16G>A | ENSP00000371370.3:n.1073+16G>A | |
| ENST00000473664.1:n.619-1658G>A | ||
| ENST00000632431.1:c.1073+16G>A | ENSP00000488723.1:n.1073+16G>A | |
| NM_033409.3:c.1073+16G>A | NP_212134.3:n.1073+16G>A | |
| XM_005260655.3:c.1073+16G>A | XP_005260712.1:n.1073+16G>A | |
| XM_011529148.1:c.1073+16G>A | XP_011527450.1:n.1073+16G>A | |
| XM_005260655.4:c.1073+16G>A | XP_005260712.1:n.1073+16G>A | |
| XM_024451821.1:c.1073+16G>A | XP_024307589.1:n.1073+16G>A | |
| NM_033409.4:c.1073+16G>A MANE Select | NP_212134.3:n.1073+16G>A | |
| NM_001370085.1:c.1073+16G>A | NP_001357014.1:n.1073+16G>A | |
| NM_001370086.1:c.1073+16G>A | NP_001357015.1:n.1073+16G>A |