Linked Data
ClinVar Variation Id:
1159674
dbSNP Id:
rs755000603
ExAC:
9:34648429 C / T
gnomAD v2:
9-34648429-C-T
gnomAD v4:
9-34648432-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34648432C>T , CM000671.2:g.34648432C>T | GRCh38 |
| NC_000009.11:g.34648429C>T , CM000671.1:g.34648429C>T | GRCh37 |
| NC_000009.10:g.34638429C>T | NCBI36 |
| NG_009029.1:g.6795C>T | |
| NG_028966.1:g.1248C>T | |
| NG_009029.2:g.6844C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*251C>T | ENSP00000509954.1:n.*251C>T | |
| ENST00000378842.8:c.663C>T MANE Select | ENSP00000368119.4:p.Tyr221= | |
| ENST00000378842.7:c.663C>T | ENSP00000368119.3:p.Tyr221= | |
| ENST00000450095.6:c.336C>T | ENSP00000401956.2:p.Tyr112= | |
| ENST00000472111.5:n.919C>T | ||
| ENST00000473506.6:c.*251C>T | ENSP00000432839.2:n.*251C>T | |
| ENST00000473529.5:n.822C>T | ||
| ENST00000487381.5:n.1048C>T | ||
| ENST00000489643.6:n.438C>T | ||
| ENST00000554085.5:c.*407C>T | ENSP00000450419.1:n.*407C>T | |
| ENST00000554550.5:c.*283C>T | ENSP00000451435.1:n.*283C>T | |
| ENST00000554638.5:n.1135C>T | ||
| ENST00000555020.5:n.819C>T | ||
| ENST00000555086.5:n.667C>T | ||
| ENST00000555214.5:n.484C>T | ||
| ENST00000555754.1:n.8C>T | ||
| ENST00000556244.1:c.650C>T | ||
| ENST00000556278.1:c.408C>T | ENSP00000451792.1:p.Tyr136= | |
| ENST00000556494.5:n.784C>T | ||
| ENST00000557706.5:n.1225C>T | ||
| NM_000155.3:c.663C>T | NP_000146.2:p.Tyr221= | |
| NM_001258332.1:c.336C>T | NP_001245261.1:p.Tyr112= | |
| NM_000155.4:c.663C>T MANE Select | NP_000146.2:p.Tyr221= | |
| NM_001258332.2:c.336C>T | NP_001245261.1:p.Tyr112= |