Linked Data
ClinVar Variation Id:
347590
ClinVar RCV Id:
RCV000334442
dbSNP Id:
rs575262316
gnomAD v2:
4-140396412-T-G
gnomAD v3:
4-139475258-T-G
gnomAD v4:
4-139475258-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139475258T>G , CM000666.2:g.139475258T>G | GRCh38 |
| NC_000004.11:g.140396412T>G , CM000666.1:g.140396412T>G | GRCh37 |
| NC_000004.10:g.140615862T>G | NCBI36 |
| NG_051587.1:g.27027T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305626.6:c.*2132T>G MANE Select | ENSP00000306496.5:n.*2132T>G | |
| ENST00000652268.1:c.*2132T>G | ENSP00000498778.1:n.*2132T>G | |
| ENST00000305626.5:c.*2132T>G | ENSP00000306496.5:n.*2132T>G | |
| NM_031296.1:c.*2132T>G | NP_112586.1:n.*2132T>G | |
| XM_011532299.1:c.*2132T>G | XP_011530601.1:n.*2132T>G | |
| NM_031296.2:c.*2132T>G | NP_112586.1:n.*2132T>G | |
| NM_031296.3:c.*2132T>G MANE Select | NP_112586.1:n.*2132T>G |