Linked Data
ClinVar Variation Id:
593279
ClinVar RCV Id:
RCV000728274
dbSNP Id:
rs398123180
gnomAD v3:
9-34647530-C-G
gnomAD v4:
9-34647530-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647530C>G , CM000671.2:g.34647530C>G | GRCh38 |
| NC_000009.11:g.34647527C>G , CM000671.1:g.34647527C>G | GRCh37 |
| NC_000009.10:g.34637527C>G | NCBI36 |
| NG_009029.1:g.5893C>G | |
| NG_028966.1:g.346C>G | |
| NG_009029.2:g.5942C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.291C>G | ENSP00000509954.1:p.Asn97Lys | |
| ENST00000378842.8:c.291C>G MANE Select | ENSP00000368119.4:p.Asn97Lys | |
| ENST00000378842.7:c.291C>G | ENSP00000368119.3:p.Asn97Lys | |
| ENST00000450095.6:c.50+272C>G | ENSP00000401956.2:n.50+272C>G | |
| ENST00000465543.6:n.630C>G | ||
| ENST00000472111.5:n.332C>G | ||
| ENST00000473506.6:c.253-11C>G | ENSP00000432839.2:n.253-11C>G | |
| ENST00000473529.5:n.338C>G | ||
| ENST00000485531.1:n.517C>G | ||
| ENST00000487381.5:n.550C>G | ||
| ENST00000489643.6:n.282+272C>G | ||
| ENST00000554085.5:c.*35C>G | ENSP00000450419.1:n.*35C>G | |
| ENST00000554139.5:n.344C>G | ||
| ENST00000554330.5:n.250-11C>G | ||
| ENST00000554550.5:c.252+272C>G | ENSP00000451435.1:n.252+272C>G | |
| ENST00000554638.5:n.548C>G | ||
| ENST00000554897.5:c.252+272C>G | ENSP00000450942.1:n.252+272C>G | |
| ENST00000554944.5:n.283-11C>G | ||
| ENST00000555020.5:n.321C>G | ||
| ENST00000555086.5:n.295C>G | ||
| ENST00000555214.5:n.261+272C>G | ||
| ENST00000556157.1:n.415C>G | ||
| ENST00000556244.1:c.278C>G | ||
| ENST00000556278.1:c.252+272C>G | ENSP00000451792.1:n.252+272C>G | |
| ENST00000556403.5:n.304C>G | ||
| ENST00000556494.5:n.323C>G | ||
| ENST00000557541.5:n.446-11C>G | ||
| ENST00000557706.5:n.638C>G | ||
| NM_000155.3:c.291C>G | NP_000146.2:p.Asn97Lys | |
| NM_001258332.1:c.50+272C>G | NP_001245261.1:n.50+272C>G | |
| NM_000155.4:c.291C>G MANE Select | NP_000146.2:p.Asn97Lys | |
| NM_001258332.2:c.50+272C>G | NP_001245261.1:n.50+272C>G |