Linked Data
ClinVar Variation Id:
2894600
ClinVar RCV Id:
RCV003610889
dbSNP Id:
rs1432202471
gnomAD v2:
9-34648469-G-A
gnomAD v4:
9-34648472-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648472G>A , CM000671.2:g.34648472G>A | GRCh38 |
| NC_000009.11:g.34648469G>A , CM000671.1:g.34648469G>A | GRCh37 |
| NC_000009.10:g.34638469G>A | NCBI36 |
| NG_009029.1:g.6835G>A | |
| NG_028966.1:g.1288G>A | |
| NG_009029.2:g.6884G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*275+16G>A | ENSP00000509954.1:n.*275+16G>A | |
| ENST00000378842.8:c.687+16G>A MANE Select | ENSP00000368119.4:n.687+16G>A | |
| ENST00000378842.7:c.687+16G>A | ENSP00000368119.3:n.687+16G>A | |
| ENST00000450095.6:c.360+16G>A | ENSP00000401956.2:n.360+16G>A | |
| ENST00000472111.5:n.959G>A | ||
| ENST00000473506.6:c.*275+16G>A | ENSP00000432839.2:n.*275+16G>A | |
| ENST00000473529.5:n.846+16G>A | ||
| ENST00000487381.5:n.1088G>A | ||
| ENST00000489643.6:n.478G>A | ||
| ENST00000554085.5:c.*431+16G>A | ENSP00000450419.1:n.*431+16G>A | |
| ENST00000554550.5:c.*307+16G>A | ENSP00000451435.1:n.*307+16G>A | |
| ENST00000554638.5:n.1159+16G>A | ||
| ENST00000555020.5:n.859G>A | ||
| ENST00000555086.5:n.691+16G>A | ||
| ENST00000555214.5:n.524G>A | ||
| ENST00000555754.1:n.32+16G>A | ||
| ENST00000556244.1:c.674+16G>A | ||
| ENST00000556278.1:c.432+16G>A | ENSP00000451792.1:n.432+16G>A | |
| ENST00000556494.5:n.824G>A | ||
| ENST00000557706.5:n.1249+16G>A | ||
| NM_000155.3:c.687+16G>A | NP_000146.2:n.687+16G>A | |
| NM_001258332.1:c.360+16G>A | NP_001245261.1:n.360+16G>A | |
| NM_000155.4:c.687+16G>A MANE Select | NP_000146.2:n.687+16G>A | |
| NM_001258332.2:c.360+16G>A | NP_001245261.1:n.360+16G>A |