Linked Data
ClinVar Variation Id:
2893274
ClinVar RCV Id:
RCV003610867
dbSNP Id:
rs1459573559
gnomAD v2:
9-34648742-C-T
gnomAD v4:
9-34648745-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648745C>T , CM000671.2:g.34648745C>T | GRCh38 |
| NC_000009.11:g.34648742C>T , CM000671.1:g.34648742C>T | GRCh37 |
| NC_000009.10:g.34638742C>T | NCBI36 |
| NG_009029.1:g.7108C>T | |
| NG_028966.1:g.1561C>T | |
| NG_009029.2:g.7157C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*276-17C>T | ENSP00000509954.1:n.*276-17C>T | |
| ENST00000378842.8:c.688-17C>T MANE Select | ENSP00000368119.4:n.688-17C>T | |
| ENST00000378842.7:c.688-17C>T | ENSP00000368119.3:n.688-17C>T | |
| ENST00000450095.6:c.361-17C>T | ENSP00000401956.2:n.361-17C>T | |
| ENST00000473506.6:c.*276-17C>T | ENSP00000432839.2:n.*276-17C>T | |
| ENST00000473529.5:n.847-17C>T | ||
| ENST00000487381.5:n.1361C>T | ||
| ENST00000489643.6:n.751C>T | ||
| ENST00000554085.5:c.*432-17C>T | ENSP00000450419.1:n.*432-17C>T | |
| ENST00000554550.5:c.*308-17C>T | ENSP00000451435.1:n.*308-17C>T | |
| ENST00000554638.5:n.1160-17C>T | ||
| ENST00000555020.5:n.1132C>T | ||
| ENST00000555086.5:n.692-17C>T | ||
| ENST00000555754.1:n.33-17C>T | ||
| ENST00000556244.1:c.675-17C>T | ||
| ENST00000556278.1:c.432+289C>T | ENSP00000451792.1:n.432+289C>T | |
| ENST00000557706.5:n.1250-17C>T | ||
| NM_000155.3:c.688-17C>T | NP_000146.2:n.688-17C>T | |
| NM_001258332.1:c.361-17C>T | NP_001245261.1:n.361-17C>T | |
| NM_000155.4:c.688-17C>T MANE Select | NP_000146.2:n.688-17C>T | |
| NM_001258332.2:c.361-17C>T | NP_001245261.1:n.361-17C>T |