Linked Data
ClinVar Variation Id:
1990338
ClinVar RCV Id:
RCV002800832
dbSNP Id:
rs765058105
ExAC:
1:55319815 A / C
gnomAD v2:
1-55319815-A-C
gnomAD v3:
1-54854142-A-C
gnomAD v4:
1-54854142-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54854142A>C , CM000663.2:g.54854142A>C | GRCh38 |
| NC_000001.10:g.55319815A>C , CM000663.1:g.55319815A>C | GRCh37 |
| NC_000001.9:g.55092403A>C | NCBI36 |
| NG_008839.1:g.38107T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371269.9:c.1113T>G MANE Select | ENSP00000360316.3:p.Gly371= | |
| ENST00000436604.2:c.1113T>G | ENSP00000416585.2:p.Gly371= | |
| ENST00000535035.6:c.1149T>G | ENSP00000440191.3:p.Gly383= | |
| ENST00000647585.1:n.917T>G | ||
| ENST00000647912.1:c.*748T>G | ENSP00000497559.1:n.*748T>G | |
| ENST00000648712.1:n.1231T>G | ||
| ENST00000648728.1:c.*768T>G | ENSP00000497084.1:n.*768T>G | |
| ENST00000649769.1:c.*768T>G | ENSP00000498012.1:n.*768T>G | |
| ENST00000371269.7:c.1113T>G | ENSP00000360316.3:p.Gly371= | |
| ENST00000436604.1:c.25T>G | ||
| ENST00000535035.5:c.846T>G | ENSP00000440191.2:p.Gly282= | |
| NM_014762.3:c.1113T>G | NP_055577.1:p.Gly371= | |
| NM_014762.4:c.1113T>G MANE Select | NP_055577.1:p.Gly371= |