Linked Data
dbSNP Id:
rs768496925
ExAC:
9:34648009 C / T
gnomAD v2:
9-34648009-C-T
gnomAD v4:
9-34648012-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648012C>T , CM000671.2:g.34648012C>T | GRCh38 |
| NC_000009.11:g.34648009C>T , CM000671.1:g.34648009C>T | GRCh37 |
| NC_000009.10:g.34638009C>T | NCBI36 |
| NG_009029.1:g.6375C>T | |
| NG_028966.1:g.828C>T | |
| NG_009029.2:g.6424C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*95+51C>T | ENSP00000509954.1:n.*95+51C>T | |
| ENST00000378842.8:c.507+51C>T MANE Select | ENSP00000368119.4:n.507+51C>T | |
| ENST00000378842.7:c.507+51C>T | ENSP00000368119.3:n.507+51C>T | |
| ENST00000450095.6:c.180+51C>T | ENSP00000401956.2:n.180+51C>T | |
| ENST00000465543.6:n.846+51C>T | ||
| ENST00000472111.5:n.763+51C>T | ||
| ENST00000473506.6:c.*95+51C>T | ENSP00000432839.2:n.*95+51C>T | |
| ENST00000473529.5:n.643+51C>T | ||
| ENST00000485531.1:n.999C>T | ||
| ENST00000487381.5:n.892+51C>T | ||
| ENST00000489643.6:n.283-103C>T | ||
| ENST00000554085.5:c.*251+51C>T | ENSP00000450419.1:n.*251+51C>T | |
| ENST00000554139.5:n.687-36C>T | ||
| ENST00000554550.5:c.*127+51C>T | ENSP00000451435.1:n.*127+51C>T | |
| ENST00000554638.5:n.979+51C>T | ||
| ENST00000554897.5:c.*128-36C>T | ENSP00000450942.1:n.*128-36C>T | |
| ENST00000554944.5:n.754C>T | ||
| ENST00000555020.5:n.663+51C>T | ||
| ENST00000555086.5:n.511+51C>T | ||
| ENST00000555214.5:n.262-36C>T | ||
| ENST00000556244.1:c.494+51C>T | ||
| ENST00000556278.1:c.253-103C>T | ENSP00000451792.1:n.253-103C>T | |
| ENST00000556494.5:n.628+51C>T | ||
| ENST00000557706.5:n.1069+51C>T | ||
| NM_000155.3:c.507+51C>T | NP_000146.2:n.507+51C>T | |
| NM_001258332.1:c.180+51C>T | NP_001245261.1:n.180+51C>T | |
| NM_000155.4:c.507+51C>T MANE Select | NP_000146.2:n.507+51C>T | |
| NM_001258332.2:c.180+51C>T | NP_001245261.1:n.180+51C>T |