Linked Data
ClinVar Variation Id:
2199285
ClinVar RCV Id:
RCV002634265
dbSNP Id:
rs748732979
ExAC:
9:34647255 G / A
gnomAD v2:
9-34647255-G-A
gnomAD v3:
9-34647258-G-A
gnomAD v4:
9-34647258-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647258G>A , CM000671.2:g.34647258G>A | GRCh38 |
| NC_000009.11:g.34647255G>A , CM000671.1:g.34647255G>A | GRCh37 |
| NC_000009.10:g.34637255G>A | NCBI36 |
| NG_009029.1:g.5621G>A | |
| NG_028966.1:g.74G>A | |
| NG_009029.2:g.5670G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.252G>A | ENSP00000509954.1:p.Glu84= | |
| ENST00000378842.8:c.252G>A MANE Select | ENSP00000368119.4:p.Glu84= | |
| ENST00000378842.7:c.252G>A | ENSP00000368119.3:p.Glu84= | |
| ENST00000450095.6:c.50G>A | ENSP00000401956.2:p.Ser17Asn | |
| ENST00000465543.6:n.591G>A | ||
| ENST00000468099.2:n.292G>A | ||
| ENST00000472111.5:n.293G>A | ||
| ENST00000473506.6:c.252G>A | ENSP00000432839.2:p.Glu84= | |
| ENST00000473529.5:n.299G>A | ||
| ENST00000485531.1:n.245G>A | ||
| ENST00000487381.5:n.278G>A | ||
| ENST00000489643.6:n.282G>A | ||
| ENST00000554085.5:c.252G>A | ENSP00000450419.1:p.Glu84= | |
| ENST00000554139.5:n.305G>A | ||
| ENST00000554330.5:n.249G>A | ||
| ENST00000554550.5:c.252G>A | ENSP00000451435.1:p.Glu84= | |
| ENST00000554638.5:n.276G>A | ||
| ENST00000554897.5:c.252G>A | ENSP00000450942.1:p.Glu84= | |
| ENST00000554944.5:n.282G>A | ||
| ENST00000555020.5:n.282G>A | ||
| ENST00000555086.5:n.256G>A | ||
| ENST00000555214.5:n.261G>A | ||
| ENST00000556157.1:n.359G>A | ||
| ENST00000556244.1:c.136G>A | ||
| ENST00000556278.1:c.252G>A | ENSP00000451792.1:p.Glu84= | |
| ENST00000556403.5:n.265G>A | ||
| ENST00000556494.5:n.284G>A | ||
| ENST00000557541.5:n.445G>A | ||
| ENST00000557706.5:n.366G>A | ||
| NM_000155.3:c.252G>A | NP_000146.2:p.Glu84= | |
| NM_001258332.1:c.50G>A | NP_001245261.1:p.Ser17Asn | |
| NM_000155.4:c.252G>A MANE Select | NP_000146.2:p.Glu84= | |
| NM_001258332.2:c.50G>A | NP_001245261.1:p.Ser17Asn |