Linked Data
dbSNP Id:
rs771077982
ExAC:
9:34647979 C / A
gnomAD v2:
9-34647979-C-A
gnomAD v4:
9-34647982-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647982C>A , CM000671.2:g.34647982C>A | GRCh38 |
| NC_000009.11:g.34647979C>A , CM000671.1:g.34647979C>A | GRCh37 |
| NC_000009.10:g.34637979C>A | NCBI36 |
| NG_009029.1:g.6345C>A | |
| NG_028966.1:g.798C>A | |
| NG_009029.2:g.6394C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*95+21C>A | ENSP00000509954.1:n.*95+21C>A | |
| ENST00000378842.8:c.507+21C>A MANE Select | ENSP00000368119.4:n.507+21C>A | |
| ENST00000378842.7:c.507+21C>A | ENSP00000368119.3:n.507+21C>A | |
| ENST00000450095.6:c.180+21C>A | ENSP00000401956.2:n.180+21C>A | |
| ENST00000465543.6:n.846+21C>A | ||
| ENST00000472111.5:n.763+21C>A | ||
| ENST00000473506.6:c.*95+21C>A | ENSP00000432839.2:n.*95+21C>A | |
| ENST00000473529.5:n.643+21C>A | ||
| ENST00000485531.1:n.969C>A | ||
| ENST00000487381.5:n.892+21C>A | ||
| ENST00000489643.6:n.283-133C>A | ||
| ENST00000554085.5:c.*251+21C>A | ENSP00000450419.1:n.*251+21C>A | |
| ENST00000554139.5:n.686+21C>A | ||
| ENST00000554550.5:c.*127+21C>A | ENSP00000451435.1:n.*127+21C>A | |
| ENST00000554638.5:n.979+21C>A | ||
| ENST00000554897.5:c.*127+21C>A | ENSP00000450942.1:n.*127+21C>A | |
| ENST00000554944.5:n.724C>A | ||
| ENST00000555020.5:n.663+21C>A | ||
| ENST00000555086.5:n.511+21C>A | ||
| ENST00000555214.5:n.262-66C>A | ||
| ENST00000556244.1:c.494+21C>A | ||
| ENST00000556278.1:c.253-133C>A | ENSP00000451792.1:n.253-133C>A | |
| ENST00000556494.5:n.628+21C>A | ||
| ENST00000557706.5:n.1069+21C>A | ||
| NM_000155.3:c.507+21C>A | NP_000146.2:n.507+21C>A | |
| NM_001258332.1:c.180+21C>A | NP_001245261.1:n.180+21C>A | |
| NM_000155.4:c.507+21C>A MANE Select | NP_000146.2:n.507+21C>A | |
| NM_001258332.2:c.180+21C>A | NP_001245261.1:n.180+21C>A |