Linked Data
ClinVar Variation Id:
346157
ClinVar RCV Id:
RCV000357683
dbSNP Id:
rs886058719
gnomAD v2:
3-53123705-G-A
gnomAD v3:
3-53089689-G-A
gnomAD v4:
3-53089689-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53089689G>A , CM000665.2:g.53089689G>A | GRCh38 |
| NC_000003.11:g.53123705G>A , CM000665.1:g.53123705G>A | GRCh37 |
| NC_000003.10:g.53098745G>A | NCBI36 |
| NG_009203.1:g.45766C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296292.8:c.*2214C>T MANE Select | ENSP00000296292.3:n.*2214C>T | |
| ENST00000296292.7:c.*2214C>T | ENSP00000296292.3:n.*2214C>T | |
| ENST00000607203.1:c.74-3837C>T | ||
| ENST00000607283.5:c.323+2680C>T | ||
| ENST00000607495.5:c.73+9692C>T | ||
| NM_052859.3:c.*2214C>T | NP_443091.1:n.*2214C>T | |
| XM_006713384.2:c.1209-3837C>T | XP_006713447.1:n.1209-3837C>T | |
| XM_011534214.1:c.1208+9692C>T | XP_011532516.1:n.1208+9692C>T | |
| XM_011534215.1:c.1208+9692C>T | XP_011532517.1:n.1208+9692C>T | |
| XM_011534216.1:c.*2214C>T | XP_011532518.1:n.*2214C>T | |
| XR_940507.1:n.1268-3837C>T | ||
| XM_006713384.3:c.1209-3837C>T | XP_006713447.1:n.1209-3837C>T | |
| XM_011534214.2:c.1208+9692C>T | XP_011532516.1:n.1208+9692C>T | |
| XM_011534215.3:c.1208+9692C>T | XP_011532517.1:n.1208+9692C>T | |
| XM_017007460.1:c.1458+2680C>T | XP_016862949.1:n.1458+2680C>T | |
| XR_001740360.2:n.3800C>T | ||
| NM_052859.4:c.*2214C>T MANE Select | NP_443091.1:n.*2214C>T |