Linked Data
ClinVar Variation Id:
343532
dbSNP Id:
rs9842062
gnomAD v2:
3-14184455-A-G
gnomAD v3:
3-14142955-A-G
gnomAD v4:
3-14142955-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14142955A>G , CM000665.2:g.14142955A>G | GRCh38 |
| NC_000003.11:g.14184455A>G , CM000665.1:g.14184455A>G | GRCh37 |
| NC_000003.10:g.14159456A>G | NCBI36 |
| NG_008975.1:g.23016A>G , LRG_435:g.23016A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*2393A>G | ENSP00000395617.1:n.*2393A>G | |
| ENST00000306077.5:c.*1160A>G MANE Select | ENSP00000303992.5:n.*1160A>G | |
| ENST00000306077.4:c.*1160A>G | ENSP00000303992.4:n.*1160A>G | |
| ENST00000601399.3:n.328-2367A>G | ||
| ENST00000608606.1:c.237-2367A>G | ||
| ENST00000626721.1:n.226+1002A>G | ||
| NM_024334.2:c.*1160A>G , LRG_435t1:c.*1160A>G | NP_077310.1:n.*1160A>G | |
| XM_011534109.1:c.*1160A>G | XP_011532411.1:n.*1160A>G | |
| XM_017007176.2:c.*1160A>G | XP_016862665.1:n.*1160A>G | |
| NM_024334.3:c.*1160A>G MANE Select | NP_077310.1:n.*1160A>G |