Linked Data
dbSNP Id:
rs771840709
ExAC:
9:34648324 T / A
gnomAD v2:
9-34648324-T-A
gnomAD v4:
9-34648327-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648327T>A , CM000671.2:g.34648327T>A | GRCh38 |
| NC_000009.11:g.34648324T>A , CM000671.1:g.34648324T>A | GRCh37 |
| NC_000009.10:g.34638324T>A | NCBI36 |
| NG_009029.1:g.6690T>A | |
| NG_028966.1:g.1143T>A | |
| NG_009029.2:g.6739T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*153-7T>A | ENSP00000509954.1:n.*153-7T>A | |
| ENST00000378842.8:c.565-7T>A MANE Select | ENSP00000368119.4:n.565-7T>A | |
| ENST00000378842.7:c.565-7T>A | ENSP00000368119.3:n.565-7T>A | |
| ENST00000450095.6:c.238-7T>A | ENSP00000401956.2:n.238-7T>A | |
| ENST00000472111.5:n.821-7T>A | ||
| ENST00000473506.6:c.*153-7T>A | ENSP00000432839.2:n.*153-7T>A | |
| ENST00000473529.5:n.724-7T>A | ||
| ENST00000485531.1:n.1159-7T>A | ||
| ENST00000487381.5:n.950-7T>A | ||
| ENST00000489643.6:n.340-7T>A | ||
| ENST00000554085.5:c.*309-7T>A | ENSP00000450419.1:n.*309-7T>A | |
| ENST00000554139.5:n.811-7T>A | ||
| ENST00000554550.5:c.*185-7T>A | ENSP00000451435.1:n.*185-7T>A | |
| ENST00000554638.5:n.1037-7T>A | ||
| ENST00000554897.5:c.*252-7T>A | ENSP00000450942.1:n.*252-7T>A | |
| ENST00000554944.5:n.914-7T>A | ||
| ENST00000555020.5:n.721-7T>A | ||
| ENST00000555086.5:n.569-7T>A | ||
| ENST00000555214.5:n.386-7T>A | ||
| ENST00000556244.1:c.552-7T>A | ||
| ENST00000556278.1:c.310-7T>A | ENSP00000451792.1:n.310-7T>A | |
| ENST00000556494.5:n.686-7T>A | ||
| ENST00000557706.5:n.1127-7T>A | ||
| NM_000155.3:c.565-7T>A | NP_000146.2:n.565-7T>A | |
| NM_001258332.1:c.238-7T>A | NP_001245261.1:n.238-7T>A | |
| NM_000155.4:c.565-7T>A MANE Select | NP_000146.2:n.565-7T>A | |
| NM_001258332.2:c.238-7T>A | NP_001245261.1:n.238-7T>A |