Linked Data
ClinVar Variation Id:
280996
dbSNP Id:
rs116479817
ExAC:
9:34647865 G / T
gnomAD v2:
9-34647865-G-T
gnomAD v3:
9-34647868-G-T
gnomAD v4:
9-34647868-G-T
PubMed:
PMID:27308838
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647868G>T , CM000671.2:g.34647868G>T | GRCh38 |
| NC_000009.11:g.34647865G>T , CM000671.1:g.34647865G>T | GRCh37 |
| NC_000009.10:g.34637865G>T | NCBI36 |
| NG_009029.1:g.6231G>T | |
| NG_028966.1:g.684G>T | |
| NG_009029.2:g.6280G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*2G>T | ENSP00000509954.1:n.*2G>T | |
| ENST00000378842.8:c.414G>T MANE Select | ENSP00000368119.4:p.Thr138= | |
| ENST00000378842.7:c.414G>T | ENSP00000368119.3:p.Thr138= | |
| ENST00000450095.6:c.87G>T | ENSP00000401956.2:p.Thr29= | |
| ENST00000465543.6:n.753G>T | ||
| ENST00000472111.5:n.670G>T | ||
| ENST00000473506.6:c.*2G>T | ENSP00000432839.2:n.*2G>T | |
| ENST00000473529.5:n.550G>T | ||
| ENST00000485531.1:n.855G>T | ||
| ENST00000487381.5:n.799G>T | ||
| ENST00000489643.6:n.283-247G>T | ||
| ENST00000554085.5:c.*158G>T | ENSP00000450419.1:n.*158G>T | |
| ENST00000554139.5:n.593G>T | ||
| ENST00000554550.5:c.*34G>T | ENSP00000451435.1:n.*34G>T | |
| ENST00000554638.5:n.886G>T | ||
| ENST00000554897.5:c.*34G>T | ENSP00000450942.1:n.*34G>T | |
| ENST00000554944.5:n.610G>T | ||
| ENST00000555020.5:n.570G>T | ||
| ENST00000555086.5:n.418G>T | ||
| ENST00000555214.5:n.262-180G>T | ||
| ENST00000556244.1:c.401G>T | ||
| ENST00000556278.1:c.253-247G>T | ENSP00000451792.1:n.253-247G>T | |
| ENST00000556494.5:n.535G>T | ||
| ENST00000557541.5:n.558G>T | ||
| ENST00000557706.5:n.976G>T | ||
| NM_000155.3:c.414G>T | NP_000146.2:p.Thr138= | |
| NM_001258332.1:c.87G>T | NP_001245261.1:p.Thr29= | |
| NM_000155.4:c.414G>T MANE Select | NP_000146.2:p.Thr138= | |
| NM_001258332.2:c.87G>T | NP_001245261.1:p.Thr29= |