Linked Data
ClinVar Variation Id:
25320
dbSNP Id:
rs111033814
gnomAD v2:
9-34649532-C-A
gnomAD v3:
9-34649535-C-A
gnomAD v4:
9-34649535-C-A
PubMed:
PMID:11261429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34649535C>A , CM000671.2:g.34649535C>A | GRCh38 |
| NC_000009.11:g.34649532C>A , CM000671.1:g.34649532C>A | GRCh37 |
| NC_000009.10:g.34639532C>A | NCBI36 |
| NG_009029.1:g.7898C>A | |
| NG_028966.1:g.2351C>A | |
| NG_009029.2:g.7947C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*618C>A | ENSP00000509954.1:n.*618C>A | |
| ENST00000378842.8:c.1030C>A MANE Select | ENSP00000368119.4:p.Gln344Lys | |
| ENST00000378842.7:c.1030C>A | ENSP00000368119.3:p.Gln344Lys | |
| ENST00000450095.6:c.703C>A | ENSP00000401956.2:p.Gln235Lys | |
| ENST00000488412.2:n.614C>A | ||
| ENST00000489643.6:n.1438C>A | ||
| ENST00000554550.5:c.*650C>A | ENSP00000451435.1:n.*650C>A | |
| ENST00000554638.5:n.1502C>A | ||
| ENST00000555020.5:n.1819C>A | ||
| ENST00000555754.1:n.478C>A | ||
| ENST00000556278.1:c.432+1079C>A | ENSP00000451792.1:n.432+1079C>A | |
| ENST00000557706.5:n.1605C>A | ||
| NM_000155.3:c.1030C>A | NP_000146.2:p.Gln344Lys | |
| NM_001258332.1:c.703C>A | NP_001245261.1:p.Gln235Lys | |
| NM_000155.4:c.1030C>A MANE Select | NP_000146.2:p.Gln344Lys | |
| NM_001258332.2:c.703C>A | NP_001245261.1:p.Gln235Lys |