Linked Data
ClinVar Variation Id:
2056177
ClinVar RCV Id:
RCV002938425
dbSNP Id:
rs758484328
ExAC:
20:741706 C / T
gnomAD v2:
20-741706-C-T
gnomAD v3:
20-761062-C-T
gnomAD v4:
20-761062-C-T
COSMIC:
COSM5057519
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.761062C>T , CM000682.2:g.761062C>T | GRCh38 |
| NC_000020.10:g.741706C>T , CM000682.1:g.741706C>T | GRCh37 |
| NC_000020.9:g.689706C>T | NCBI36 |
| NG_027687.1:g.12523G>A | |
| NG_027687.2:g.19924G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381944.5:c.*588G>A | ENSP00000371370.3:n.*588G>A | |
| ENST00000473664.2:c.868G>A | ENSP00000502741.1:p.Val290Ile | |
| ENST00000488495.3:c.1374G>A | ENSP00000494009.1:p.Ser458= | |
| ENST00000645534.1:c.1374G>A MANE Select | ENSP00000494193.1:p.Ser458= | |
| ENST00000217254.11:c.1374G>A | ENSP00000217254.7:p.Ser458= | |
| ENST00000381944.4:c.*588G>A | ENSP00000371370.3:n.*588G>A | |
| ENST00000473664.1:n.919G>A | ||
| ENST00000632431.1:c.1374G>A | ENSP00000488723.1:p.Ser458= | |
| NM_033409.3:c.1374G>A | NP_212134.3:p.Ser458= | |
| XM_005260655.3:c.1374G>A | XP_005260712.1:p.Ser458= | |
| XM_011529148.1:c.1374G>A | XP_011527450.1:p.Ser458= | |
| XM_005260655.4:c.1374G>A | XP_005260712.1:p.Ser458= | |
| XM_024451821.1:c.1374G>A | XP_024307589.1:p.Ser458= | |
| NM_033409.4:c.1374G>A MANE Select | NP_212134.3:p.Ser458= | |
| NM_001370085.1:c.1374G>A | NP_001357014.1:p.Ser458= | |
| NM_001370086.1:c.1374G>A | NP_001357015.1:p.Ser458= |