Linked Data
ClinVar Variation Id:
3618
dbSNP Id:
rs111033690
ExAC:
9:34647855 C / T
gnomAD v2:
9-34647855-C-T
gnomAD v3:
9-34647858-C-T
gnomAD v4:
9-34647858-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647858C>T , CM000671.2:g.34647858C>T | GRCh38 |
| NC_000009.11:g.34647855C>T , CM000671.1:g.34647855C>T | GRCh37 |
| NC_000009.10:g.34637855C>T | NCBI36 |
| NG_009029.1:g.6221C>T | |
| NG_028966.1:g.674C>T | |
| NG_009029.2:g.6270C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.355C>T | ENSP00000509954.1:p.Arg119Trp | |
| ENST00000378842.8:c.404C>T MANE Select | ENSP00000368119.4:p.Ser135Leu | |
| ENST00000378842.7:c.404C>T | ENSP00000368119.3:p.Ser135Leu | |
| ENST00000450095.6:c.77C>T | ENSP00000401956.2:p.Ser26Leu | |
| ENST00000465543.6:n.743C>T | ||
| ENST00000472111.5:n.660C>T | ||
| ENST00000473506.6:c.355C>T | ENSP00000432839.2:p.Arg119Trp | |
| ENST00000473529.5:n.540C>T | ||
| ENST00000485531.1:n.845C>T | ||
| ENST00000487381.5:n.789C>T | ||
| ENST00000489643.6:n.283-257C>T | ||
| ENST00000554085.5:c.*148C>T | ENSP00000450419.1:n.*148C>T | |
| ENST00000554139.5:n.583C>T | ||
| ENST00000554550.5:c.*24C>T | ENSP00000451435.1:n.*24C>T | |
| ENST00000554638.5:n.876C>T | ||
| ENST00000554897.5:c.*24C>T | ENSP00000450942.1:n.*24C>T | |
| ENST00000554944.5:n.600C>T | ||
| ENST00000555020.5:n.560C>T | ||
| ENST00000555086.5:n.408C>T | ||
| ENST00000555214.5:n.262-190C>T | ||
| ENST00000556244.1:c.391C>T | ||
| ENST00000556278.1:c.253-257C>T | ENSP00000451792.1:n.253-257C>T | |
| ENST00000556494.5:n.525C>T | ||
| ENST00000557541.5:n.548C>T | ||
| ENST00000557706.5:n.966C>T | ||
| NM_000155.3:c.404C>T | NP_000146.2:p.Ser135Leu | |
| NM_001258332.1:c.77C>T | NP_001245261.1:p.Ser26Leu | |
| NM_000155.4:c.404C>T MANE Select | NP_000146.2:p.Ser135Leu | |
| NM_001258332.2:c.77C>T | NP_001245261.1:p.Ser26Leu |