Linked Data
ClinVar Variation Id:
2978642
ClinVar RCV Id:
RCV003839288
dbSNP Id:
rs754651106
ExAC:
9:34647640 C / T
gnomAD v2:
9-34647640-C-T
gnomAD v3:
9-34647643-C-T
gnomAD v4:
9-34647643-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647643C>T , CM000671.2:g.34647643C>T | GRCh38 |
| NC_000009.11:g.34647640C>T , CM000671.1:g.34647640C>T | GRCh37 |
| NC_000009.10:g.34637640C>T | NCBI36 |
| NG_009029.1:g.6006C>T | |
| NG_028966.1:g.459C>T | |
| NG_009029.2:g.6055C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.328+76C>T | ENSP00000509954.1:n.328+76C>T | |
| ENST00000378842.8:c.329-14C>T MANE Select | ENSP00000368119.4:n.329-14C>T | |
| ENST00000378842.7:c.329-14C>T | ENSP00000368119.3:n.329-14C>T | |
| ENST00000450095.6:c.51-189C>T | ENSP00000401956.2:n.51-189C>T | |
| ENST00000465543.6:n.668-14C>T | ||
| ENST00000472111.5:n.445C>T | ||
| ENST00000473506.6:c.280-14C>T | ENSP00000432839.2:n.280-14C>T | |
| ENST00000473529.5:n.451C>T | ||
| ENST00000485531.1:n.630C>T | ||
| ENST00000487381.5:n.588-14C>T | ||
| ENST00000489643.6:n.282+385C>T | ||
| ENST00000554085.5:c.*73-14C>T | ENSP00000450419.1:n.*73-14C>T | |
| ENST00000554139.5:n.382-14C>T | ||
| ENST00000554330.5:n.352C>T | ||
| ENST00000554550.5:c.253-189C>T | ENSP00000451435.1:n.253-189C>T | |
| ENST00000554638.5:n.661C>T | ||
| ENST00000554897.5:c.253-189C>T | ENSP00000450942.1:n.253-189C>T | |
| ENST00000554944.5:n.385C>T | ||
| ENST00000555020.5:n.359-14C>T | ||
| ENST00000555086.5:n.333-14C>T | ||
| ENST00000555214.5:n.261+385C>T | ||
| ENST00000556157.1:n.453-14C>T | ||
| ENST00000556244.1:c.316-14C>T | ||
| ENST00000556278.1:c.252+385C>T | ENSP00000451792.1:n.252+385C>T | |
| ENST00000556403.5:n.417C>T | ||
| ENST00000556494.5:n.436C>T | ||
| ENST00000557541.5:n.473-14C>T | ||
| ENST00000557706.5:n.751C>T | ||
| NM_000155.3:c.329-14C>T | NP_000146.2:n.329-14C>T | |
| NM_001258332.1:c.51-189C>T | NP_001245261.1:n.51-189C>T | |
| NM_000155.4:c.329-14C>T MANE Select | NP_000146.2:n.329-14C>T | |
| NM_001258332.2:c.51-189C>T | NP_001245261.1:n.51-189C>T |